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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: 14-53951861-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=53951861&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 53951861,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001347912.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "NM_001202.6",
"protein_id": "NP_001193.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245451.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000245451.9",
"protein_id": "ENSP00000245451.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001202.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245451.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000558984.1",
"protein_id": "ENSP00000454134.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558984.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000559087.5",
"protein_id": "ENSP00000453485.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559087.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.503A>G",
"hgvs_p": "p.His168Arg",
"transcript": "NM_001347912.1",
"protein_id": "NP_001334841.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 455,
"cds_start": 503,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347912.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "NM_001347914.2",
"protein_id": "NP_001334843.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347914.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "NM_001347916.1",
"protein_id": "NP_001334845.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347916.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "NM_130850.5",
"protein_id": "NP_570911.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130850.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "NM_130851.4",
"protein_id": "NP_570912.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130851.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000417573.5",
"protein_id": "ENSP00000394165.1",
"transcript_support_level": 5,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417573.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890805.1",
"protein_id": "ENSP00000560864.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890805.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890806.1",
"protein_id": "ENSP00000560865.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890806.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890807.1",
"protein_id": "ENSP00000560866.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890807.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890808.1",
"protein_id": "ENSP00000560867.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890808.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890809.1",
"protein_id": "ENSP00000560868.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890809.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890810.1",
"protein_id": "ENSP00000560869.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890810.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890811.1",
"protein_id": "ENSP00000560870.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890811.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000890812.1",
"protein_id": "ENSP00000560871.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890812.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000939836.1",
"protein_id": "ENSP00000609895.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939836.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000939837.1",
"protein_id": "ENSP00000609896.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939837.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000939838.1",
"protein_id": "ENSP00000609897.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939838.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMP4",
"gene_hgnc_id": 1071,
"hgvs_c": "c.362A>G",
"hgvs_p": "p.His121Arg",
"transcript": "ENST00000939839.1",
"protein_id": "ENSP00000609898.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 408,
"cds_start": 362,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939839.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
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{
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Microphthalmia with brain and digit anomalies|Orofacial cleft 11;Microphthalmia with brain and digit anomalies|Orofacial cleft 11|BMP4-related disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}