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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: 16-28593320-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=28593320&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 28593320,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001054.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "NM_001054.4",
"protein_id": "NP_001045.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000335715.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001054.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000335715.9",
"protein_id": "ENSP00000338742.4",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001054.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335715.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Val226Met",
"transcript": "ENST00000898358.1",
"protein_id": "ENSP00000568417.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 345,
"cds_start": 676,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898358.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898343.1",
"protein_id": "ENSP00000568402.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 300,
"cds_start": 526,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898343.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "NM_001400258.1",
"protein_id": "NP_001387187.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400258.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "NM_001400259.1",
"protein_id": "NP_001387188.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400259.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "NM_001400264.1",
"protein_id": "NP_001387193.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400264.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "NM_177528.4",
"protein_id": "NP_803564.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177528.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000395630.5",
"protein_id": "ENSP00000378992.1",
"transcript_support_level": 5,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395630.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898323.1",
"protein_id": "ENSP00000568382.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898323.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898324.1",
"protein_id": "ENSP00000568383.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898324.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898328.1",
"protein_id": "ENSP00000568387.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898328.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898332.1",
"protein_id": "ENSP00000568391.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898332.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898333.1",
"protein_id": "ENSP00000568392.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898333.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898334.1",
"protein_id": "ENSP00000568393.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898334.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898340.1",
"protein_id": "ENSP00000568399.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898340.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898342.1",
"protein_id": "ENSP00000568401.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898342.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898346.1",
"protein_id": "ENSP00000568405.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898346.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898348.1",
"protein_id": "ENSP00000568407.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898348.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000898349.1",
"protein_id": "ENSP00000568408.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898349.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Val176Met",
"transcript": "ENST00000966913.1",
"protein_id": "ENSP00000636972.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 295,
"cds_start": 526,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966913.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SULT1A2",
"gene_hgnc_id": 11454,
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Val162Met",
"transcript": "ENST00000898354.1",
"protein_id": "ENSP00000568413.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 281,
"cds_start": 484,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898354.1"
},
{
"aa_ref": "V",
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"phenotype_combined": "not specified",
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}
],
"message": null
}