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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: 12-6954843-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6954843&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6954843,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_080549.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "NM_002831.6",
"protein_id": "NP_002822.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 595,
"cds_start": 365,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318974.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002831.6"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000318974.14",
"protein_id": "ENSP00000326010.9",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 595,
"cds_start": 365,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002831.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318974.14"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000456013.5",
"protein_id": "ENSP00000391592.1",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 624,
"cds_start": 365,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456013.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.371C>A",
"hgvs_p": "p.Thr124Lys",
"transcript": "ENST00000399448.5",
"protein_id": "ENSP00000382376.1",
"transcript_support_level": 1,
"aa_start": 124,
"aa_end": null,
"aa_length": 597,
"cds_start": 371,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399448.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "NM_080549.4",
"protein_id": "NP_536859.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 624,
"cds_start": 365,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080549.4"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.371C>A",
"hgvs_p": "p.Thr124Lys",
"transcript": "NM_080548.5",
"protein_id": "NP_536858.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 597,
"cds_start": 371,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080548.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000877771.1",
"protein_id": "ENSP00000547830.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 595,
"cds_start": 365,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877771.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000877772.1",
"protein_id": "ENSP00000547831.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 595,
"cds_start": 365,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877772.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000911913.1",
"protein_id": "ENSP00000581972.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 595,
"cds_start": 365,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911913.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000877773.1",
"protein_id": "ENSP00000547832.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 590,
"cds_start": 365,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877773.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000538715.5",
"protein_id": "ENSP00000438740.1",
"transcript_support_level": 4,
"aa_start": 122,
"aa_end": null,
"aa_length": 164,
"cds_start": 365,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538715.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "ENST00000541698.5",
"protein_id": "ENSP00000445646.1",
"transcript_support_level": 4,
"aa_start": 122,
"aa_end": null,
"aa_length": 149,
"cds_start": 365,
"cds_end": null,
"cds_length": 452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541698.5"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.242C>A",
"hgvs_p": "p.Thr81Lys",
"transcript": "ENST00000542462.1",
"protein_id": "ENSP00000440114.1",
"transcript_support_level": 4,
"aa_start": 81,
"aa_end": null,
"aa_length": 143,
"cds_start": 242,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542462.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.371C>A",
"hgvs_p": "p.Thr124Lys",
"transcript": "XM_011520988.2",
"protein_id": "XP_011519290.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 597,
"cds_start": 371,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520988.2"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "XM_024449106.1",
"protein_id": "XP_024304874.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 595,
"cds_start": 365,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449106.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.371C>A",
"hgvs_p": "p.Thr124Lys",
"transcript": "XM_047429231.1",
"protein_id": "XP_047285187.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 558,
"cds_start": 371,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429231.1"
},
{
"aa_ref": "T",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "c.365C>A",
"hgvs_p": "p.Thr122Lys",
"transcript": "XM_047429232.1",
"protein_id": "XP_047285188.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 556,
"cds_start": 365,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "n.773C>A",
"hgvs_p": null,
"transcript": "ENST00000416215.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000416215.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "n.364C>A",
"hgvs_p": null,
"transcript": "ENST00000534900.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "pseudogene",
"feature": "ENST00000534900.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "n.*148C>A",
"hgvs_p": null,
"transcript": "ENST00000535462.5",
"protein_id": "ENSP00000441044.1",
"transcript_support_level": 4,
"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": "ENST00000535462.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "n.*64C>A",
"hgvs_p": null,
"transcript": "ENST00000536013.5",
"protein_id": "ENSP00000446345.1",
"transcript_support_level": 5,
"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": "ENST00000536013.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPN6",
"gene_hgnc_id": 9658,
"hgvs_c": "n.491C>A",
"hgvs_p": null,
"transcript": "ENST00000538318.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000538318.5"
},
{
"aa_ref": null,
"aa_alt": null,
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"protein_coding": false,
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}
],
"message": null
}