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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: 2-127259402-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127259402&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127259402,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000285398.7",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Ser704Leu",
"transcript": "NM_000122.2",
"protein_id": "NP_000113.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 782,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": "ENST00000285398.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Ser704Leu",
"transcript": "ENST00000285398.7",
"protein_id": "ENSP00000285398.2",
"transcript_support_level": 1,
"aa_start": 704,
"aa_end": null,
"aa_length": 782,
"cds_start": 2111,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 2174,
"cdna_end": null,
"cdna_length": 2718,
"mane_select": "NM_000122.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2186C>T",
"hgvs_p": "p.Ser729Leu",
"transcript": "ENST00000647169.1",
"protein_id": "ENSP00000495619.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 807,
"cds_start": 2186,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 2787,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Ser640Leu",
"transcript": "NM_001303416.2",
"protein_id": "NP_001290345.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 718,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 2915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.1919C>T",
"hgvs_p": "p.Ser640Leu",
"transcript": "NM_001303418.2",
"protein_id": "NP_001290347.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 718,
"cds_start": 1919,
"cds_end": null,
"cds_length": 2157,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 2977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.2129C>T",
"hgvs_p": "p.Ser710Leu",
"transcript": "XM_011510794.3",
"protein_id": "XP_011509096.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 788,
"cds_start": 2129,
"cds_end": null,
"cds_length": 2367,
"cdna_start": 2192,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ser558Leu",
"transcript": "XM_011510795.2",
"protein_id": "XP_011509097.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 636,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1959,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2092C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2154C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.3481C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*1600C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2323C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*883C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*561C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.2846C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*1578C>T",
"hgvs_p": null,
"transcript": "ENST00000646654.1",
"protein_id": "ENSP00000494526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2092C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2154C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*1600C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*2323C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*883C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*561C>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"hgvs_c": "n.*1578C>T",
"hgvs_p": null,
"transcript": "ENST00000646654.1",
"protein_id": "ENSP00000494526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.394-1800C>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": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERCC3",
"gene_hgnc_id": 3435,
"dbsnp": "rs4150521",
"frequency_reference_population": 0.0024880306,
"hom_count_reference_population": 9,
"allele_count_reference_population": 4016,
"gnomad_exomes_af": 0.00251387,
"gnomad_genomes_af": 0.00223988,
"gnomad_exomes_ac": 3675,
"gnomad_genomes_ac": 341,
"gnomad_exomes_homalt": 9,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008400142192840576,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.1038,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.324,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000285398.7",
"gene_symbol": "ERCC3",
"hgnc_id": 3435,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2111C>T",
"hgvs_p": "p.Ser704Leu"
}
],
"clinvar_disease": "ERCC3-related disorder,Xeroderma pigmentosum,Xeroderma pigmentosum group B,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:1 O:1",
"phenotype_combined": "not specified|Xeroderma pigmentosum group B|Xeroderma pigmentosum|not provided|ERCC3-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}