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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: 12-59774848-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=59774848&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 59774848,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004731.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "NM_001270623.2",
"protein_id": "NP_001257552.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000547379.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270623.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000547379.6",
"protein_id": "ENSP00000448071.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270623.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547379.6"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000261187.8",
"protein_id": "ENSP00000261187.4",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261187.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000552432.5",
"protein_id": "ENSP00000449547.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.*435C>G",
"hgvs_p": null,
"transcript": "ENST00000549928.5",
"protein_id": "ENSP00000449167.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549928.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "n.*435C>G",
"hgvs_p": null,
"transcript": "ENST00000549928.5",
"protein_id": "ENSP00000449167.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549928.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Leu211Val",
"transcript": "ENST00000858943.1",
"protein_id": "ENSP00000529002.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 504,
"cds_start": 631,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858943.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Leu211Val",
"transcript": "ENST00000858953.1",
"protein_id": "ENSP00000529012.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 504,
"cds_start": 631,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858953.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.631C>G",
"hgvs_p": "p.Leu211Val",
"transcript": "ENST00000858955.1",
"protein_id": "ENSP00000529014.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 504,
"cds_start": 631,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858955.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000958122.1",
"protein_id": "ENSP00000628181.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 484,
"cds_start": 553,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958122.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "NM_001270622.2",
"protein_id": "NP_001257551.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270622.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "NM_004731.5",
"protein_id": "NP_004722.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004731.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000552024.5",
"protein_id": "ENSP00000448742.1",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552024.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858944.1",
"protein_id": "ENSP00000529003.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858944.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858945.1",
"protein_id": "ENSP00000529004.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858945.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858946.1",
"protein_id": "ENSP00000529005.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858946.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858947.1",
"protein_id": "ENSP00000529006.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858947.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858948.1",
"protein_id": "ENSP00000529007.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858948.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858949.1",
"protein_id": "ENSP00000529008.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858949.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858950.1",
"protein_id": "ENSP00000529009.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858950.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858951.1",
"protein_id": "ENSP00000529010.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858951.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC16A7",
"gene_hgnc_id": 10928,
"hgvs_c": "c.553C>G",
"hgvs_p": "p.Leu185Val",
"transcript": "ENST00000858952.1",
"protein_id": "ENSP00000529011.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 478,
"cds_start": 553,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
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