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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: 5-176626472-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176626472&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 176626472,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003085.5",
"consequences": [
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "NM_003085.5",
"protein_id": "NP_003076.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393693.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003085.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000393693.7",
"protein_id": "ENSP00000377296.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003085.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393693.7"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000310112.7",
"protein_id": "ENSP00000308057.3",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310112.7"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.166G>A",
"hgvs_p": "p.Val56Met",
"transcript": "ENST00000614675.4",
"protein_id": "ENSP00000479489.1",
"transcript_support_level": 1,
"aa_start": 56,
"aa_end": null,
"aa_length": 120,
"cds_start": 166,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614675.4"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.391G>A",
"hgvs_p": "p.Val131Met",
"transcript": "ENST00000912557.1",
"protein_id": "ENSP00000582616.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 195,
"cds_start": 391,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912557.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "NM_001001502.3",
"protein_id": "NP_001001502.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001502.3"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "NM_001363140.2",
"protein_id": "NP_001350069.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363140.2"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000506696.1",
"protein_id": "ENSP00000422223.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506696.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000510387.5",
"protein_id": "ENSP00000424073.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510387.5"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000862608.1",
"protein_id": "ENSP00000532667.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862608.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000862609.1",
"protein_id": "ENSP00000532668.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862609.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000862611.1",
"protein_id": "ENSP00000532670.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862611.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000912556.1",
"protein_id": "ENSP00000582615.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912556.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000912558.1",
"protein_id": "ENSP00000582617.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912558.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000912559.1",
"protein_id": "ENSP00000582618.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912559.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946187.1",
"protein_id": "ENSP00000616246.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946187.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946191.1",
"protein_id": "ENSP00000616250.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946191.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946192.1",
"protein_id": "ENSP00000616251.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946192.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946194.1",
"protein_id": "ENSP00000616253.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946194.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946195.1",
"protein_id": "ENSP00000616254.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946195.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946197.1",
"protein_id": "ENSP00000616256.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946197.1"
},
{
"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": "SNCB",
"gene_hgnc_id": 11140,
"hgvs_c": "c.208G>A",
"hgvs_p": "p.Val70Met",
"transcript": "ENST00000946198.1",
"protein_id": "ENSP00000616257.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 134,
"cds_start": 208,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946198.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
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