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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: 15-30910758-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=30910758&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FAN1",
"hgnc_id": 29170,
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_014967.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_score": -13,
"allele_count_reference_population": 14369,
"alphamissense_prediction": null,
"alphamissense_score": 0.1189,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "15",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Karyomegalic interstitial nephritis,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008552342653274536,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_014967.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362065.9",
"protein_coding": true,
"protein_id": "NP_055782.3",
"strand": true,
"transcript": "NM_014967.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4849,
"cdna_start": 1769,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000362065.9",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014967.5",
"protein_coding": true,
"protein_id": "ENSP00000354497.4",
"strand": true,
"transcript": "ENST00000362065.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2738,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000561594.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455983.1",
"strand": true,
"transcript": "ENST00000561594.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 1805,
"cds_end": null,
"cds_length": 1602,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000561607.6",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454223.1",
"strand": true,
"transcript": "ENST00000561607.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000565280.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "n.*361G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455573.1",
"strand": true,
"transcript": "ENST00000565280.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4999,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000565280.5",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "n.*361G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000455573.1",
"strand": true,
"transcript": "ENST00000565280.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1065,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5025,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 3198,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915272.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585331.1",
"strand": true,
"transcript": "ENST00000915272.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4984,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879296.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549355.1",
"strand": true,
"transcript": "ENST00000879296.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1022,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 3069,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879300.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549359.1",
"strand": true,
"transcript": "ENST00000879300.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4753,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000656435.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499534.1",
"strand": true,
"transcript": "ENST00000656435.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000657391.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499703.1",
"strand": true,
"transcript": "ENST00000657391.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1017,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4714,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000670849.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499638.1",
"strand": true,
"transcript": "ENST00000670849.1",
"transcript_support_level": null
},
{
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"aa_length": 1017,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4774,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879297.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549356.1",
"strand": true,
"transcript": "ENST00000879297.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 1917,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879299.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549358.1",
"strand": true,
"transcript": "ENST00000879299.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3741,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879301.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549360.1",
"strand": true,
"transcript": "ENST00000879301.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3521,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915271.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585330.1",
"strand": true,
"transcript": "ENST00000915271.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1017,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5380,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 3054,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000915273.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585332.1",
"strand": true,
"transcript": "ENST00000915273.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 1778,
"cds_end": null,
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"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967654.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637713.1",
"strand": true,
"transcript": "ENST00000967654.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4851,
"cdna_start": 1789,
"cds_end": null,
"cds_length": 3039,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967653.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637712.1",
"strand": true,
"transcript": "ENST00000967653.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 997,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4788,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 2994,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967655.1",
"gene_hgnc_id": 29170,
"gene_symbol": "FAN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Arg507His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637714.1",
"strand": true,
"transcript": "ENST00000967655.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 974,
"aa_ref": "R",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2925,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915277.1",
"gene_hgnc_id": 29170,
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