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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: 1-6218353-AAC-TCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6218353&ref=AAC&alt=TCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF207",
"hgnc_id": 32947,
"hgvs_c": "c.1717_1719delAACinsTCG",
"hgvs_p": "p.Asn573Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_207396.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_207396.3",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1717_1719delAACinsTCG",
"hgvs_p": "p.Asn573Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377939.5",
"protein_coding": true,
"protein_id": "NP_997279.2",
"strand": true,
"transcript": "NM_207396.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377939.5",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1717_1719delAACinsTCG",
"hgvs_p": "p.Asn573Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207396.3",
"protein_coding": true,
"protein_id": "ENSP00000367173.4",
"strand": true,
"transcript": "ENST00000377939.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 721,
"aa_ref": "N",
"aa_start": 660,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3144,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1978,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951272.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1978_1980delAACinsTCG",
"hgvs_p": "p.Asn660Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621331.1",
"strand": true,
"transcript": "ENST00000951272.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 662,
"aa_ref": "N",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4062,
"cdna_start": 1985,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1801,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882099.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1801_1803delAACinsTCG",
"hgvs_p": "p.Asn601Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552158.1",
"strand": true,
"transcript": "ENST00000882099.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 656,
"aa_ref": "N",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4771,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882098.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1783_1785delAACinsTCG",
"hgvs_p": "p.Asn595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552157.1",
"strand": true,
"transcript": "ENST00000882098.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 656,
"aa_ref": "N",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882100.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1783_1785delAACinsTCG",
"hgvs_p": "p.Asn595Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552159.1",
"strand": true,
"transcript": "ENST00000882100.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 653,
"aa_ref": "N",
"aa_start": 592,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 2536,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1774,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951264.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1774_1776delAACinsTCG",
"hgvs_p": "p.Asn592Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621323.1",
"strand": true,
"transcript": "ENST00000951264.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "N",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 1934,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1735,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882101.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1735_1737delAACinsTCG",
"hgvs_p": "p.Asn579Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552160.1",
"strand": true,
"transcript": "ENST00000882101.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "N",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1735,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951271.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1735_1737delAACinsTCG",
"hgvs_p": "p.Asn579Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621330.1",
"strand": true,
"transcript": "ENST00000951271.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1924,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882102.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1717_1719delAACinsTCG",
"hgvs_p": "p.Asn573Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552161.1",
"strand": true,
"transcript": "ENST00000882102.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 634,
"aa_ref": "N",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1717,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951270.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1717_1719delAACinsTCG",
"hgvs_p": "p.Asn573Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621329.1",
"strand": true,
"transcript": "ENST00000951270.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 633,
"aa_ref": "N",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951267.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1714_1716delAACinsTCG",
"hgvs_p": "p.Asn572Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621326.1",
"strand": true,
"transcript": "ENST00000951267.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 621,
"aa_ref": "N",
"aa_start": 560,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2783,
"cdna_start": 1839,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1678,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951273.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1678_1680delAACinsTCG",
"hgvs_p": "p.Asn560Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621332.1",
"strand": true,
"transcript": "ENST00000951273.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "N",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2804,
"cdna_start": 1857,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882103.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1648_1650delAACinsTCG",
"hgvs_p": "p.Asn550Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552162.1",
"strand": true,
"transcript": "ENST00000882103.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 611,
"aa_ref": "N",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951266.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1648_1650delAACinsTCG",
"hgvs_p": "p.Asn550Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621325.1",
"strand": true,
"transcript": "ENST00000951266.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 608,
"aa_ref": "N",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3412,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1639,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951268.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1639_1641delAACinsTCG",
"hgvs_p": "p.Asn547Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621327.1",
"strand": true,
"transcript": "ENST00000951268.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 554,
"aa_ref": "N",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3227,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922640.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1477_1479delAACinsTCG",
"hgvs_p": "p.Asn493Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592699.1",
"strand": true,
"transcript": "ENST00000922640.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "N",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1426,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882104.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1426_1428delAACinsTCG",
"hgvs_p": "p.Asn476Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552163.1",
"strand": true,
"transcript": "ENST00000882104.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 522,
"aa_ref": "N",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 1542,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951265.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1381_1383delAACinsTCG",
"hgvs_p": "p.Asn461Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621324.1",
"strand": true,
"transcript": "ENST00000951265.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 516,
"aa_ref": "N",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951269.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1363_1365delAACinsTCG",
"hgvs_p": "p.Asn455Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621328.1",
"strand": true,
"transcript": "ENST00000951269.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 656,
"aa_ref": "N",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 1783,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
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