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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: 19-49196460-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49196460&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRPM4",
"hgnc_id": 17993,
"hgvs_c": "c.2231A>T",
"hgvs_p": "p.Lys744Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_017636.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_score": -9,
"allele_count_reference_population": 48,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1222,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Cardiovascular phenotype,Progressive familial heart block type IB,TRPM4-related disorder,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.02162235975265503,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "K",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 3645,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_017636.4",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2231A>T",
"hgvs_p": "p.Lys744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252826.10",
"protein_coding": true,
"protein_id": "NP_060106.2",
"strand": true,
"transcript": "NM_017636.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1214,
"aa_ref": "K",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 3645,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000252826.10",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2231A>T",
"hgvs_p": "p.Lys744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017636.4",
"protein_coding": true,
"protein_id": "ENSP00000252826.4",
"strand": true,
"transcript": "ENST00000252826.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1069,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3444,
"cdna_start": null,
"cds_end": null,
"cds_length": 3210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427978.6",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2211-3840A>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407492.1",
"strand": true,
"transcript": "ENST00000427978.6",
"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": 3702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000595519.5",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "n.*1641A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469893.1",
"strand": true,
"transcript": "ENST00000595519.5",
"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": 3695,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000598502.5",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "n.*1344A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000470229.1",
"strand": true,
"transcript": "ENST00000598502.5",
"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": 3702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000595519.5",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "n.*1641A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469893.1",
"strand": true,
"transcript": "ENST00000595519.5",
"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": 3695,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000598502.5",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "n.*1344A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000470229.1",
"strand": true,
"transcript": "ENST00000598502.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "K",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4046,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 3636,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864591.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2231A>T",
"hgvs_p": "p.Lys744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534650.1",
"strand": true,
"transcript": "ENST00000864591.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "K",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4009,
"cdna_start": 2271,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864593.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2231A>T",
"hgvs_p": "p.Lys744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534652.1",
"strand": true,
"transcript": "ENST00000864593.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "K",
"aa_start": 744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 3609,
"cds_start": 2231,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000963018.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2231A>T",
"hgvs_p": "p.Lys744Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633077.1",
"strand": true,
"transcript": "ENST00000963018.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "K",
"aa_start": 718,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 3567,
"cds_start": 2153,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000864590.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2153A>T",
"hgvs_p": "p.Lys718Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534649.1",
"strand": true,
"transcript": "ENST00000864590.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1186,
"aa_ref": "E",
"aa_start": 732,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3951,
"cdna_start": 2254,
"cds_end": null,
"cds_length": 3561,
"cds_start": 2196,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000864592.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2196A>T",
"hgvs_p": "p.Glu732Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534651.1",
"strand": true,
"transcript": "ENST00000864592.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1099,
"aa_ref": "K",
"aa_start": 629,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3713,
"cdna_start": 1961,
"cds_end": null,
"cds_length": 3300,
"cds_start": 1886,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321281.2",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.1886A>T",
"hgvs_p": "p.Lys629Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308210.1",
"strand": true,
"transcript": "NM_001321281.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1040,
"aa_ref": "K",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3702,
"cdna_start": 1950,
"cds_end": null,
"cds_length": 3123,
"cds_start": 1709,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321283.2",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.1709A>T",
"hgvs_p": "p.Lys570Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308212.1",
"strand": true,
"transcript": "NM_001321283.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 983,
"aa_ref": "K",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 2952,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000864589.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.1538A>T",
"hgvs_p": "p.Lys513Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534648.1",
"strand": true,
"transcript": "ENST00000864589.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 860,
"aa_ref": "K",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3325,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1169,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321285.2",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.1169A>T",
"hgvs_p": "p.Lys390Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308214.1",
"strand": true,
"transcript": "NM_001321285.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 678,
"aa_ref": "K",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 2037,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001321282.2",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.623A>T",
"hgvs_p": "p.Lys208Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308211.1",
"strand": true,
"transcript": "NM_001321282.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1371,
"aa_ref": "K",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5411,
"cdna_start": 3659,
"cds_end": null,
"cds_length": 4116,
"cds_start": 2702,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047438992.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2702A>T",
"hgvs_p": "p.Lys901Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294948.1",
"strand": true,
"transcript": "XM_047438992.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 785,
"aa_ref": "K",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2816,
"cdna_start": 1064,
"cds_end": null,
"cds_length": 2358,
"cds_start": 944,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047438993.1",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.944A>T",
"hgvs_p": "p.Lys315Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294949.1",
"strand": true,
"transcript": "XM_047438993.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1069,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": null,
"cds_end": null,
"cds_length": 3210,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001195227.2",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
"hgvs_c": "c.2211-3840A>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001182156.1",
"strand": true,
"transcript": "NM_001195227.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000595071.5",
"gene_hgnc_id": 17993,
"gene_symbol": "TRPM4",
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]
}