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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: 9-9910123-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=9910123&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 9910123,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000381196.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "NM_002839.4",
"protein_id": "NP_002830.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "ENST00000381196.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "ENST00000381196.9",
"protein_id": "ENSP00000370593.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "NM_002839.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-440+28384C>T",
"hgvs_p": null,
"transcript": "ENST00000463477.5",
"protein_id": "ENSP00000417661.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 202,
"cds_start": -4,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "ENST00000850942.1",
"protein_id": "ENSP00000521027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300622",
"gene_hgnc_id": null,
"hgvs_c": "n.242+26178G>A",
"hgvs_p": null,
"transcript": "ENST00000773010.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000300622",
"gene_hgnc_id": null,
"hgvs_c": "n.94-29316G>A",
"hgvs_p": null,
"transcript": "ENST00000773011.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "XM_017014958.3",
"protein_id": "XP_016870447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1932,
"cds_start": -4,
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"cds_length": 5799,
"cdna_start": null,
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"cdna_length": 10134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "XM_017014961.3",
"protein_id": "XP_016870450.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1932,
"cds_start": -4,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "XM_047423641.1",
"protein_id": "XP_047279597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1932,
"cds_start": -4,
"cds_end": null,
"cds_length": 5799,
"cdna_start": null,
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"cdna_length": 10269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "XM_017014963.3",
"protein_id": "XP_016870452.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1931,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 47,
"intron_rank": 4,
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"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.-368+28384C>T",
"hgvs_p": null,
"transcript": "XM_017014964.3",
"protein_id": "XP_016870453.1",
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},
{
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],
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"gene_symbol": "PTPRD",
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},
{
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],
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"gene_symbol": "PTPRD",
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},
{
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],
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"gene_symbol": "PTPRD",
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],
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},
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],
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"gene_symbol": "PTPRD",
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},
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],
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"gene_symbol": "PTPRD",
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],
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"gene_symbol": "PTPRD",
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],
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],
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},
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],
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