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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: 7-107776503-AGA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107776503&ref=AGA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"effects": [
"frameshift_variant",
"synonymous_variant"
],
"gene_symbol": "SLC26A3",
"hgnc_id": 3018,
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"inheritance_mode": "AR",
"pathogenic_score": 11,
"score": 11,
"transcript": "NM_000111.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_score": 11,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": " chloride type,Congenital secretory diarrhea",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_000111.3",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340010.10",
"protein_coding": true,
"protein_id": "NP_000102.1",
"strand": false,
"transcript": "NM_000111.3",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000340010.10",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000111.3",
"protein_coding": true,
"protein_id": "ENSP00000345873.5",
"strand": false,
"transcript": "ENST00000340010.10",
"transcript_support_level": 1
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 771,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2316,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852261.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522320.1",
"strand": false,
"transcript": "ENST00000852261.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 769,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2897,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852262.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522321.1",
"strand": false,
"transcript": "ENST00000852262.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2846,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852250.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522309.1",
"strand": false,
"transcript": "ENST00000852250.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2896,
"cdna_start": 1843,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852251.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522310.1",
"strand": false,
"transcript": "ENST00000852251.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852254.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522313.1",
"strand": false,
"transcript": "ENST00000852254.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2955,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852257.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522316.1",
"strand": false,
"transcript": "ENST00000852257.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2902,
"cdna_start": 1849,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852263.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522322.1",
"strand": false,
"transcript": "ENST00000852263.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 764,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000852270.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522329.1",
"strand": false,
"transcript": "ENST00000852270.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 763,
"aa_ref": "S",
"aa_start": 541,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 1824,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1621,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852259.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1621_1623delTCTinsC",
"hgvs_p": "p.Ser541fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522318.1",
"strand": false,
"transcript": "ENST00000852259.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 762,
"aa_ref": "S",
"aa_start": 540,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 2289,
"cds_start": 1618,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852264.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1618_1620delTCTinsC",
"hgvs_p": "p.Ser540fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522323.1",
"strand": false,
"transcript": "ENST00000852264.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 758,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852256.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522315.1",
"strand": false,
"transcript": "ENST00000852256.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 747,
"aa_ref": "S",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2831,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 2244,
"cds_start": 1573,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852267.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1573_1575delTCTinsC",
"hgvs_p": "p.Ser525fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522326.1",
"strand": false,
"transcript": "ENST00000852267.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 746,
"aa_ref": "S",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1570,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852258.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1570_1572delTCTinsC",
"hgvs_p": "p.Ser524fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522317.1",
"strand": false,
"transcript": "ENST00000852258.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 742,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852269.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522328.1",
"strand": false,
"transcript": "ENST00000852269.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 732,
"aa_ref": "S",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2822,
"cdna_start": 1829,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1624,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000852252.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1624_1626delTCTinsC",
"hgvs_p": "p.Ser542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522311.1",
"strand": false,
"transcript": "ENST00000852252.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 732,
"aa_ref": "S",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1528,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852265.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1528_1530delTCTinsC",
"hgvs_p": "p.Ser510fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522324.1",
"strand": false,
"transcript": "ENST00000852265.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 727,
"aa_ref": "S",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1513,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852253.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1513_1515delTCTinsC",
"hgvs_p": "p.Ser505fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522312.1",
"strand": false,
"transcript": "ENST00000852253.1",
"transcript_support_level": null
},
{
"aa_alt": "?",
"aa_end": null,
"aa_length": 726,
"aa_ref": "S",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 2181,
"cds_start": 1510,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000852268.1",
"gene_hgnc_id": 3018,
"gene_symbol": "SLC26A3",
"hgvs_c": "c.1510_1512delTCTinsC",
"hgvs_p": "p.Ser504fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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