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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: 1-241858517-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=241858517&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 241858517,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006027.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "NM_130398.4",
"protein_id": "NP_569082.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366548.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130398.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "ENST00000366548.8",
"protein_id": "ENSP00000355506.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130398.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366548.8"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "ENST00000348581.9",
"protein_id": "ENSP00000311873.5",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348581.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "ENST00000518483.5",
"protein_id": "ENSP00000430251.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 803,
"cds_start": 555,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518483.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "NM_006027.4",
"protein_id": "NP_006018.4",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006027.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "NM_001319224.2",
"protein_id": "NP_001306153.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 845,
"cds_start": 555,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319224.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "ENST00000926749.1",
"protein_id": "ENSP00000596808.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 845,
"cds_start": 555,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926749.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.552G>T",
"hgvs_p": "p.Lys184Asn",
"transcript": "ENST00000926752.1",
"protein_id": "ENSP00000596811.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 845,
"cds_start": 552,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926752.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "ENST00000926753.1",
"protein_id": "ENSP00000596812.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 845,
"cds_start": 555,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926753.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.546G>T",
"hgvs_p": "p.Lys182Asn",
"transcript": "ENST00000926748.1",
"protein_id": "ENSP00000596807.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 843,
"cds_start": 546,
"cds_end": null,
"cds_length": 2532,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926748.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.546G>T",
"hgvs_p": "p.Lys182Asn",
"transcript": "ENST00000926751.1",
"protein_id": "ENSP00000596810.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 842,
"cds_start": 546,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926751.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.516G>T",
"hgvs_p": "p.Lys172Asn",
"transcript": "ENST00000926750.1",
"protein_id": "ENSP00000596809.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 833,
"cds_start": 516,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926750.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "NM_003686.4",
"protein_id": "NP_003677.4",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 803,
"cds_start": 555,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003686.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.435G>T",
"hgvs_p": "p.Lys145Asn",
"transcript": "ENST00000423131.5",
"protein_id": "ENSP00000415531.1",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 168,
"cds_start": 435,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423131.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.426G>T",
"hgvs_p": "p.Lys142Asn",
"transcript": "ENST00000437497.5",
"protein_id": "ENSP00000412041.1",
"transcript_support_level": 3,
"aa_start": 142,
"aa_end": null,
"aa_length": 165,
"cds_start": 426,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437497.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_006711840.3",
"protein_id": "XP_006711903.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711840.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_011544321.3",
"protein_id": "XP_011542623.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544321.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_011544322.2",
"protein_id": "XP_011542624.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544322.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_047434104.1",
"protein_id": "XP_047290060.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434104.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_047434106.1",
"protein_id": "XP_047290062.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 846,
"cds_start": 555,
"cds_end": null,
"cds_length": 2541,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434106.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_011544323.3",
"protein_id": "XP_011542625.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 845,
"cds_start": 555,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011544323.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXO1",
"gene_hgnc_id": 3511,
"hgvs_c": "c.555G>T",
"hgvs_p": "p.Lys185Asn",
"transcript": "XM_047434107.1",
"protein_id": "XP_047290063.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 845,
"cds_start": 555,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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],
"gene_symbol": "EXO1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84385e-7,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.6718830466270447,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.417,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.465,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_006027.4",
"gene_symbol": "EXO1",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}