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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: 9-8319950-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=8319950&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 8319950,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002839.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5551A>C",
"hgvs_p": "p.Thr1851Pro",
"transcript": "NM_002839.4",
"protein_id": "NP_002830.1",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5551,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6573,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "ENST00000381196.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5551A>C",
"hgvs_p": "p.Thr1851Pro",
"transcript": "ENST00000381196.9",
"protein_id": "ENSP00000370593.3",
"transcript_support_level": 5,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5551,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6573,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "NM_002839.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4333A>C",
"hgvs_p": "p.Thr1445Pro",
"transcript": "ENST00000355233.9",
"protein_id": "ENSP00000347373.5",
"transcript_support_level": 1,
"aa_start": 1445,
"aa_end": null,
"aa_length": 1506,
"cds_start": 4333,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 4436,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4330A>C",
"hgvs_p": "p.Thr1444Pro",
"transcript": "ENST00000397606.7",
"protein_id": "ENSP00000380731.3",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4330,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4381,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4330A>C",
"hgvs_p": "p.Thr1444Pro",
"transcript": "ENST00000486161.5",
"protein_id": "ENSP00000417093.1",
"transcript_support_level": 1,
"aa_start": 1444,
"aa_end": null,
"aa_length": 1505,
"cds_start": 4330,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 4381,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4303A>C",
"hgvs_p": "p.Thr1435Pro",
"transcript": "ENST00000537002.5",
"protein_id": "ENSP00000440515.2",
"transcript_support_level": 1,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1496,
"cds_start": 4303,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 4409,
"cdna_end": null,
"cdna_length": 8224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5611A>C",
"hgvs_p": "p.Thr1871Pro",
"transcript": "NM_001377958.1",
"protein_id": "NP_001364887.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5611,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 5944,
"cdna_end": null,
"cdna_length": 9760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5566A>C",
"hgvs_p": "p.Thr1856Pro",
"transcript": "NM_001378058.1",
"protein_id": "NP_001364987.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 1917,
"cds_start": 5566,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 5899,
"cdna_end": null,
"cdna_length": 9715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5551A>C",
"hgvs_p": "p.Thr1851Pro",
"transcript": "ENST00000356435.9",
"protein_id": "ENSP00000348812.5",
"transcript_support_level": 5,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5551,
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"cds_length": 5739,
"cdna_start": 5657,
"cdna_end": null,
"cdna_length": 9472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5551A>C",
"hgvs_p": "p.Thr1851Pro",
"transcript": "ENST00000540109.5",
"protein_id": "ENSP00000438164.1",
"transcript_support_level": 5,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5551,
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"cds_length": 5739,
"cdna_start": 5657,
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"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5551A>C",
"hgvs_p": "p.Thr1851Pro",
"transcript": "ENST00000850942.1",
"protein_id": "ENSP00000521027.1",
"transcript_support_level": null,
"aa_start": 1851,
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"aa_length": 1912,
"cds_start": 5551,
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"cdna_start": 6734,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "PTPRD",
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"hgvs_c": "c.4342A>C",
"hgvs_p": "p.Thr1448Pro",
"transcript": "NM_001377946.1",
"protein_id": "NP_001364875.1",
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"aa_start": 1448,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
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"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4339A>C",
"hgvs_p": "p.Thr1447Pro",
"transcript": "ENST00000397617.8",
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},
{
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],
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"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "PTPRD",
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},
{
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"consequences": [
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],
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4330A>C",
"hgvs_p": "p.Thr1444Pro",
"transcript": "NM_001171025.2",
"protein_id": "NP_001164496.1",
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},
{
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"protein_coding": true,
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],
"exon_rank": 31,
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"exon_count": 32,
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"gene_symbol": "PTPRD",
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"hgvs_c": "c.4330A>C",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 29,
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4321A>C",
"hgvs_p": "p.Thr1441Pro",
"transcript": "NM_001040712.2",
"protein_id": "NP_001035802.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.4321A>C",
"hgvs_p": "p.Thr1441Pro",
"transcript": "ENST00000397611.7",
"protein_id": "ENSP00000380735.3",
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},
{
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],
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"gene_symbol": "PTPRD",
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"hgvs_c": "c.4312A>C",
"hgvs_p": "p.Thr1438Pro",
"transcript": "NM_001377947.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "PTPRD",
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"hgvs_c": "c.4303A>C",
"hgvs_p": "p.Thr1435Pro",
"transcript": "NM_130393.3",
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},
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],
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"gene_symbol": "PTPRD",
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"transcript": "XM_017014958.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5611A>C",
"hgvs_p": "p.Thr1871Pro",
"transcript": "XM_017014961.3",
"protein_id": "XP_016870450.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 47,
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"exon_count": 48,
"intron_rank": null,
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