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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 2-127257652-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127257652&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127257652,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000122.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Trp",
"transcript": "NM_000122.2",
"protein_id": "NP_000113.1",
"transcript_support_level": null,
"aa_start": 765,
"aa_end": null,
"aa_length": 782,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285398.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000122.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Trp",
"transcript": "ENST00000285398.7",
"protein_id": "ENSP00000285398.2",
"transcript_support_level": 1,
"aa_start": 765,
"aa_end": null,
"aa_length": 782,
"cds_start": 2293,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000122.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285398.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2368C>T",
"hgvs_p": "p.Arg790Trp",
"transcript": "ENST00000647169.1",
"protein_id": "ENSP00000495619.1",
"transcript_support_level": null,
"aa_start": 790,
"aa_end": null,
"aa_length": 807,
"cds_start": 2368,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647169.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2344C>T",
"hgvs_p": "p.Arg782Trp",
"transcript": "ENST00000918332.1",
"protein_id": "ENSP00000588391.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 799,
"cds_start": 2344,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918332.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2311C>T",
"hgvs_p": "p.Arg771Trp",
"transcript": "ENST00000890189.1",
"protein_id": "ENSP00000560248.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 788,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890189.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2290C>T",
"hgvs_p": "p.Arg764Trp",
"transcript": "ENST00000958089.1",
"protein_id": "ENSP00000628148.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 781,
"cds_start": 2290,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958089.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2125C>T",
"hgvs_p": "p.Arg709Trp",
"transcript": "ENST00000918333.1",
"protein_id": "ENSP00000588392.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 726,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918333.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2113C>T",
"hgvs_p": "p.Arg705Trp",
"transcript": "ENST00000918334.1",
"protein_id": "ENSP00000588393.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 722,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918334.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "NM_001303416.2",
"protein_id": "NP_001290345.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 718,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303416.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "NM_001303418.2",
"protein_id": "NP_001290347.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 718,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303418.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2101C>T",
"hgvs_p": "p.Arg701Trp",
"transcript": "ENST00000890190.1",
"protein_id": "ENSP00000560249.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 718,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890190.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2311C>T",
"hgvs_p": "p.Arg771Trp",
"transcript": "XM_011510794.3",
"protein_id": "XP_011509096.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 788,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510794.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.1855C>T",
"hgvs_p": "p.Arg619Trp",
"transcript": "XM_011510795.2",
"protein_id": "XP_011509097.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 636,
"cds_start": 1855,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510795.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.394-50C>T",
"hgvs_p": null,
"transcript": "ENST00000647496.1",
"protein_id": "ENSP00000496038.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647496.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2274C>T",
"hgvs_p": null,
"transcript": "ENST00000426778.5",
"protein_id": "ENSP00000415335.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426778.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2336C>T",
"hgvs_p": null,
"transcript": "ENST00000445889.5",
"protein_id": "ENSP00000390888.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000445889.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.3663C>T",
"hgvs_p": null,
"transcript": "ENST00000491292.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491292.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*1782C>T",
"hgvs_p": null,
"transcript": "ENST00000644317.1",
"protein_id": "ENSP00000494012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644317.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2505C>T",
"hgvs_p": null,
"transcript": "ENST00000645233.1",
"protein_id": "ENSP00000494116.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*1065C>T",
"hgvs_p": null,
"transcript": "ENST00000645467.1",
"protein_id": "ENSP00000494889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*743C>T",
"hgvs_p": null,
"transcript": "ENST00000645736.1",
"protein_id": "ENSP00000494545.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000645736.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.3028C>T",
"hgvs_p": null,
"transcript": "ENST00000646042.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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"feature": "ENST00000646654.1"
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{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
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"exon_rank": 15,
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"feature": "ENST00000426778.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
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"transcript": "ENST00000445889.5",
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"feature": "ENST00000445889.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"3_prime_UTR_variant"
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"exon_rank": 15,
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"gene_symbol": "ERCC3",
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"transcript": "ENST00000644317.1",
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{
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"strand": false,
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"feature": "ENST00000645233.1"
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{
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"strand": false,
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{
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"gene_symbol": "ERCC3",
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{
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"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "ERCC3",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000646654.1"
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],
"gene_symbol": "ERCC3",
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"dbsnp": "rs774571443",
"frequency_reference_population": 0.0000130109265,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136813,
"gnomad_genomes_af": 0.00000657125,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2698765695095062,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.213,
"revel_prediction": "Benign",
"alphamissense_score": 0.331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.595,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_000122.2",
"gene_symbol": "ERCC3",
"hgnc_id": 3435,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2293C>T",
"hgvs_p": "p.Arg765Trp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}