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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: 9-8341184-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=8341184&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 8341184,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002839.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5032A>G",
"hgvs_p": "p.Ile1678Val",
"transcript": "NM_002839.4",
"protein_id": "NP_002830.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6054,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "ENST00000381196.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5032A>G",
"hgvs_p": "p.Ile1678Val",
"transcript": "ENST00000381196.9",
"protein_id": "ENSP00000370593.3",
"transcript_support_level": 5,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6054,
"cdna_end": null,
"cdna_length": 10389,
"mane_select": "NM_002839.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3814A>G",
"hgvs_p": "p.Ile1272Val",
"transcript": "ENST00000355233.9",
"protein_id": "ENSP00000347373.5",
"transcript_support_level": 1,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3814,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 3917,
"cdna_end": null,
"cdna_length": 8251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3811A>G",
"hgvs_p": "p.Ile1271Val",
"transcript": "ENST00000397606.7",
"protein_id": "ENSP00000380731.3",
"transcript_support_level": 1,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 3862,
"cdna_end": null,
"cdna_length": 5038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3811A>G",
"hgvs_p": "p.Ile1271Val",
"transcript": "ENST00000486161.5",
"protein_id": "ENSP00000417093.1",
"transcript_support_level": 1,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3811,
"cds_end": null,
"cds_length": 4518,
"cdna_start": 3862,
"cdna_end": null,
"cdna_length": 5039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3784A>G",
"hgvs_p": "p.Ile1262Val",
"transcript": "ENST00000537002.5",
"protein_id": "ENSP00000440515.2",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3784,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3890,
"cdna_end": null,
"cdna_length": 8224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5092A>G",
"hgvs_p": "p.Ile1698Val",
"transcript": "NM_001377958.1",
"protein_id": "NP_001364887.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5092,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 5425,
"cdna_end": null,
"cdna_length": 9760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5047A>G",
"hgvs_p": "p.Ile1683Val",
"transcript": "NM_001378058.1",
"protein_id": "NP_001364987.1",
"transcript_support_level": null,
"aa_start": 1683,
"aa_end": null,
"aa_length": 1917,
"cds_start": 5047,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 5380,
"cdna_end": null,
"cdna_length": 9715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5032A>G",
"hgvs_p": "p.Ile1678Val",
"transcript": "ENST00000356435.9",
"protein_id": "ENSP00000348812.5",
"transcript_support_level": 5,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 5138,
"cdna_end": null,
"cdna_length": 9472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5032A>G",
"hgvs_p": "p.Ile1678Val",
"transcript": "ENST00000540109.5",
"protein_id": "ENSP00000438164.1",
"transcript_support_level": 5,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 5138,
"cdna_end": null,
"cdna_length": 6210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5032A>G",
"hgvs_p": "p.Ile1678Val",
"transcript": "ENST00000850942.1",
"protein_id": "ENSP00000521027.1",
"transcript_support_level": null,
"aa_start": 1678,
"aa_end": null,
"aa_length": 1912,
"cds_start": 5032,
"cds_end": null,
"cds_length": 5739,
"cdna_start": 6215,
"cdna_end": null,
"cdna_length": 10550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3823A>G",
"hgvs_p": "p.Ile1275Val",
"transcript": "NM_001377946.1",
"protein_id": "NP_001364875.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1509,
"cds_start": 3823,
"cds_end": null,
"cds_length": 4530,
"cdna_start": 4156,
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"cdna_length": 8491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3820A>G",
"hgvs_p": "p.Ile1274Val",
"transcript": "ENST00000397617.8",
"protein_id": "ENSP00000380741.4",
"transcript_support_level": 5,
"aa_start": 1274,
"aa_end": null,
"aa_length": 1508,
"cds_start": 3820,
"cds_end": null,
"cds_length": 4527,
"cdna_start": 3923,
"cdna_end": null,
"cdna_length": 8257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3814A>G",
"hgvs_p": "p.Ile1272Val",
"transcript": "NM_130392.3",
"protein_id": "NP_569076.2",
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"aa_end": null,
"aa_length": 1506,
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"cdna_start": 3917,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3811A>G",
"hgvs_p": "p.Ile1271Val",
"transcript": "NM_001171025.2",
"protein_id": "NP_001164496.1",
"transcript_support_level": null,
"aa_start": 1271,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3811,
"cds_end": null,
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"cdna_start": 4144,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3811A>G",
"hgvs_p": "p.Ile1271Val",
"transcript": "NM_130391.4",
"protein_id": "NP_569075.2",
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"aa_start": 1271,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3802A>G",
"hgvs_p": "p.Ile1268Val",
"transcript": "NM_001040712.2",
"protein_id": "NP_001035802.1",
"transcript_support_level": null,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1502,
"cds_start": 3802,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 3905,
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"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3802A>G",
"hgvs_p": "p.Ile1268Val",
"transcript": "ENST00000397611.7",
"protein_id": "ENSP00000380735.3",
"transcript_support_level": 5,
"aa_start": 1268,
"aa_end": null,
"aa_length": 1502,
"cds_start": 3802,
"cds_end": null,
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"cdna_start": 3908,
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"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3793A>G",
"hgvs_p": "p.Ile1265Val",
"transcript": "NM_001377947.1",
"protein_id": "NP_001364876.1",
"transcript_support_level": null,
"aa_start": 1265,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.3784A>G",
"hgvs_p": "p.Ile1262Val",
"transcript": "NM_130393.3",
"protein_id": "NP_569077.2",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3784,
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"cdna_start": 3887,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5092A>G",
"hgvs_p": "p.Ile1698Val",
"transcript": "XM_017014958.3",
"protein_id": "XP_016870447.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5092,
"cds_end": null,
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"cdna_start": 5799,
"cdna_end": null,
"cdna_length": 10134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PTPRD",
"gene_hgnc_id": 9668,
"hgvs_c": "c.5092A>G",
"hgvs_p": "p.Ile1698Val",
"transcript": "XM_017014961.3",
"protein_id": "XP_016870450.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 1932,
"cds_start": 5092,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 5744,
"cdna_end": null,
"cdna_length": 10079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
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