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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: 1-6218354-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6218354&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RNF207",
"hgnc_id": 32947,
"hgvs_c": "c.1718A>C",
"hgvs_p": "p.Asn573Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_207396.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0584,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.039071738719940186,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"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": 1902,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_207396.3",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1718A>C",
"hgvs_p": "p.Asn573Thr",
"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": "T",
"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": 1902,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000377939.5",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1718A>C",
"hgvs_p": "p.Asn573Thr",
"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": "T",
"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": 2198,
"cds_end": null,
"cds_length": 2166,
"cds_start": 1979,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000951272.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1979A>C",
"hgvs_p": "p.Asn660Thr",
"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": "T",
"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": 1986,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1802,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000882099.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1802A>C",
"hgvs_p": "p.Asn601Thr",
"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": "T",
"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": 2695,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000882098.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1784A>C",
"hgvs_p": "p.Asn595Thr",
"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": "T",
"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": 1877,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000882100.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1784A>C",
"hgvs_p": "p.Asn595Thr",
"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": "T",
"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": 2537,
"cds_end": null,
"cds_length": 1962,
"cds_start": 1775,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951264.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1775A>C",
"hgvs_p": "p.Asn592Thr",
"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": "T",
"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": 1935,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000882101.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1736A>C",
"hgvs_p": "p.Asn579Thr",
"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": "T",
"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": 1884,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000951271.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1736A>C",
"hgvs_p": "p.Asn579Thr",
"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": "T",
"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": 1925,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000882102.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1718A>C",
"hgvs_p": "p.Asn573Thr",
"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": "T",
"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": 1884,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951270.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1718A>C",
"hgvs_p": "p.Asn573Thr",
"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": "T",
"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": 1957,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951267.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1715A>C",
"hgvs_p": "p.Asn572Thr",
"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": "T",
"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": 1840,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1679,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000951273.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1679A>C",
"hgvs_p": "p.Asn560Thr",
"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": "T",
"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": 1858,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000882103.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1649A>C",
"hgvs_p": "p.Asn550Thr",
"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": "T",
"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": 1797,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1649,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000951266.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1649A>C",
"hgvs_p": "p.Asn550Thr",
"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": "T",
"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": 1835,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000951268.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1640A>C",
"hgvs_p": "p.Asn547Thr",
"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": "T",
"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": 1649,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1478,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000922640.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1478A>C",
"hgvs_p": "p.Asn493Thr",
"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": "T",
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"aa_length": 537,
"aa_ref": "N",
"aa_start": 476,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1905,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1427,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000882104.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1427A>C",
"hgvs_p": "p.Asn476Thr",
"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": "T",
"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": 1543,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1382,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951265.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1382A>C",
"hgvs_p": "p.Asn461Thr",
"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": "T",
"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": 1548,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1364,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000951269.1",
"gene_hgnc_id": 32947,
"gene_symbol": "RNF207",
"hgvs_c": "c.1364A>C",
"hgvs_p": "p.Asn455Thr",
"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": "T",
"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": 1784,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1784,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047420021.1",
"gene_hgnc_id": 32947,
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