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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: 9-70536068-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=70536068&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRPM3",
"hgnc_id": 17992,
"hgvs_c": "c.5120G>A",
"hgvs_p": "p.Arg1707Gln",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001366147.2",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000308298",
"hgnc_id": null,
"hgvs_c": "n.520+73213C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000833041.1",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "KLF9-DT",
"hgnc_id": 54815,
"hgvs_c": "n.467-14211C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "XR_001746707.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 913536,
"alphamissense_prediction": null,
"alphamissense_score": 0.1078,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.09,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000001284678091906244,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1719,
"aa_ref": "R",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12320,
"cdna_start": 5312,
"cds_end": null,
"cds_length": 5160,
"cds_start": 5045,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001366145.2",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5045G>A",
"hgvs_p": "p.Arg1682Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000677713.2",
"protein_coding": true,
"protein_id": "NP_001353074.1",
"strand": false,
"transcript": "NM_001366145.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1719,
"aa_ref": "R",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12320,
"cdna_start": 5312,
"cds_end": null,
"cds_length": 5160,
"cds_start": 5045,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000677713.2",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5045G>A",
"hgvs_p": "p.Arg1682Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366145.2",
"protein_coding": true,
"protein_id": "ENSP00000503830.2",
"strand": false,
"transcript": "ENST00000677713.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1707,
"aa_ref": "R",
"aa_start": 1670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12258,
"cdna_start": 5253,
"cds_end": null,
"cds_length": 5124,
"cds_start": 5009,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000377110.9",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5009G>A",
"hgvs_p": "p.Arg1670Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366314.4",
"strand": false,
"transcript": "ENST00000377110.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": null,
"cds_end": null,
"cds_length": 3978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000377111.8",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.3956-617G>A",
"hgvs_p": null,
"intron_rank": 25,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366315.4",
"strand": false,
"transcript": "ENST00000377111.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1744,
"aa_ref": "R",
"aa_start": 1707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12395,
"cdna_start": 5387,
"cds_end": null,
"cds_length": 5235,
"cds_start": 5120,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001366147.2",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5120G>A",
"hgvs_p": "p.Arg1707Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353076.1",
"strand": false,
"transcript": "NM_001366147.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1711,
"aa_ref": "R",
"aa_start": 1674,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5287,
"cdna_start": 5163,
"cds_end": null,
"cds_length": 5136,
"cds_start": 5021,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000357533.7",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5021G>A",
"hgvs_p": "p.Arg1674Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350140.2",
"strand": false,
"transcript": "ENST00000357533.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "R",
"aa_start": 1672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12159,
"cdna_start": 5151,
"cds_end": null,
"cds_length": 5130,
"cds_start": 5015,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001366141.2",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Arg1672Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353070.1",
"strand": false,
"transcript": "NM_001366141.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1709,
"aa_ref": "R",
"aa_start": 1672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12290,
"cdna_start": 5282,
"cds_end": null,
"cds_length": 5130,
"cds_start": 5015,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001366149.2",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5015G>A",
"hgvs_p": "p.Arg1672Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353078.1",
"strand": false,
"transcript": "NM_001366149.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1707,
"aa_ref": "R",
"aa_start": 1670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12284,
"cdna_start": 5276,
"cds_end": null,
"cds_length": 5124,
"cds_start": 5009,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_001007471.4",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.5009G>A",
"hgvs_p": "p.Arg1670Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007472.2",
"strand": false,
"transcript": "NM_001007471.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1685,
"aa_ref": "R",
"aa_start": 1648,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5928,
"cdna_start": 4943,
"cds_end": null,
"cds_length": 5058,
"cds_start": 4943,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000707140.1",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4943G>A",
"hgvs_p": "p.Arg1648Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516762.1",
"strand": false,
"transcript": "ENST00000707140.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1579,
"aa_ref": "R",
"aa_start": 1542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11982,
"cdna_start": 4974,
"cds_end": null,
"cds_length": 4740,
"cds_start": 4625,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_206946.5",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4625G>A",
"hgvs_p": "p.Arg1542Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996829.3",
"strand": false,
"transcript": "NM_206946.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1579,
"aa_ref": "R",
"aa_start": 1542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4740,
"cdna_start": 4625,
"cds_end": null,
"cds_length": 4740,
"cds_start": 4625,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000396292.8",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4625G>A",
"hgvs_p": "p.Arg1542Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379587.4",
"strand": false,
"transcript": "ENST00000396292.8",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "R",
"aa_start": 1532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11952,
"cdna_start": 4944,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4595,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "NM_206947.5",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4595G>A",
"hgvs_p": "p.Arg1532Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996830.3",
"strand": false,
"transcript": "NM_206947.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 1569,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4710,
"cdna_start": 4595,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4595,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000358082.7",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4595G>A",
"hgvs_p": "p.Arg1532Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350791.3",
"strand": false,
"transcript": "ENST00000358082.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "R",
"aa_start": 1532,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 4950,
"cds_end": null,
"cds_length": 4710,
"cds_start": 4595,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000360823.6",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4595G>A",
"hgvs_p": "p.Arg1532Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354066.2",
"strand": false,
"transcript": "ENST00000360823.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1566,
"aa_ref": "R",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11943,
"cdna_start": 4935,
"cds_end": null,
"cds_length": 4701,
"cds_start": 4586,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_024971.7",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4586G>A",
"hgvs_p": "p.Arg1529Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079247.5",
"strand": false,
"transcript": "NM_024971.7",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5957,
"cdna_start": 4941,
"cds_end": null,
"cds_length": 4701,
"cds_start": 4586,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000377105.5",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4586G>A",
"hgvs_p": "p.Arg1529Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366309.1",
"strand": false,
"transcript": "ENST00000377105.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
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"aa_length": 1566,
"aa_ref": "R",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 4586,
"cds_end": null,
"cds_length": 4701,
"cds_start": 4586,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000396285.5",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4586G>A",
"hgvs_p": "p.Arg1529Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379581.1",
"strand": false,
"transcript": "ENST00000396285.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1566,
"aa_ref": "R",
"aa_start": 1529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 4586,
"cds_end": null,
"cds_length": 4701,
"cds_start": 4586,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000408909.6",
"gene_hgnc_id": 17992,
"gene_symbol": "TRPM3",
"hgvs_c": "c.4586G>A",
"hgvs_p": "p.Arg1529Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386127.2",
"strand": false,
"transcript": "ENST00000408909.6",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "R",
"aa_start": 1519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11913,
"cdna_start": 4905,
"cds_end": null,
"cds_length": 4671,
"cds_start": 4556,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
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