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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: 12-122992507-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=122992507&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 122992507,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000320201.10",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "NM_020845.3",
"protein_id": "NP_065896.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": "ENST00000320201.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "ENST00000320201.10",
"protein_id": "ENSP00000322218.4",
"transcript_support_level": 5,
"aa_start": 799,
"aa_end": null,
"aa_length": 1349,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 7134,
"mane_select": "NM_020845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "NM_001384660.1",
"protein_id": "NP_001371589.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1408,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 7031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "NM_001300801.2",
"protein_id": "NP_001287730.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1343,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 7116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "NM_001384668.1",
"protein_id": "NP_001371597.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1343,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 7152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "ENST00000280562.9",
"protein_id": "ENSP00000280562.5",
"transcript_support_level": 5,
"aa_start": 799,
"aa_end": null,
"aa_length": 1343,
"cds_start": 2396,
"cds_end": null,
"cds_length": 4032,
"cdna_start": 2602,
"cdna_end": null,
"cdna_length": 6785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "NM_001384661.1",
"protein_id": "NP_001371590.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2396,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 2933,
"cdna_end": null,
"cdna_length": 6972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "NM_001384663.1",
"protein_id": "NP_001371592.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1295,
"cds_start": 2396,
"cds_end": null,
"cds_length": 3888,
"cdna_start": 2969,
"cdna_end": null,
"cdna_length": 7008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2345C>G",
"hgvs_p": "p.Thr782Arg",
"transcript": "NM_001384664.1",
"protein_id": "NP_001371593.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 1278,
"cds_start": 2345,
"cds_end": null,
"cds_length": 3837,
"cdna_start": 2918,
"cdna_end": null,
"cdna_length": 6957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "XM_024449099.2",
"protein_id": "XP_024304867.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2396,
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"cds_length": 4308,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 7112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "XM_047429200.1",
"protein_id": "XP_047285156.1",
"transcript_support_level": null,
"aa_start": 799,
"aa_end": null,
"aa_length": 1435,
"cds_start": 2396,
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"cdna_start": 2933,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "XM_047429201.1",
"protein_id": "XP_047285157.1",
"transcript_support_level": null,
"aa_start": 799,
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"cds_start": 2396,
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"cdna_start": 6336,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2414C>G",
"hgvs_p": "p.Thr805Arg",
"transcript": "XM_047429202.1",
"protein_id": "XP_047285158.1",
"transcript_support_level": null,
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"cds_start": 2414,
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"cdna_start": 2824,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 16,
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"exon_count": 27,
"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2366C>G",
"hgvs_p": "p.Thr789Arg",
"transcript": "XM_047429203.1",
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"biotype": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2363C>G",
"hgvs_p": "p.Thr788Arg",
"transcript": "XM_047429204.1",
"protein_id": "XP_047285160.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1386,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2198C>G",
"hgvs_p": "p.Thr733Arg",
"transcript": "XM_024449100.2",
"protein_id": "XP_024304868.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2414C>G",
"hgvs_p": "p.Thr805Arg",
"transcript": "XM_047429205.1",
"protein_id": "XP_047285161.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "XM_047429206.1",
"protein_id": "XP_047285162.1",
"transcript_support_level": null,
"aa_start": 799,
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},
{
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"strand": false,
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],
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"intron_rank": null,
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"gene_symbol": "PITPNM2",
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"transcript": "XM_047429207.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2396C>G",
"hgvs_p": "p.Thr799Arg",
"transcript": "XM_047429208.1",
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},
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"strand": false,
"consequences": [
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],
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"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2366C>G",
"hgvs_p": "p.Thr789Arg",
"transcript": "XM_047429209.1",
"protein_id": "XP_047285165.1",
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"aa_start": 789,
"aa_end": null,
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"cdna_start": 2776,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PITPNM2",
"gene_hgnc_id": 21044,
"hgvs_c": "c.2348C>G",
"hgvs_p": "p.Thr783Arg",
"transcript": "XM_047429210.1",
"protein_id": "XP_047285166.1",
"transcript_support_level": null,
"aa_start": 783,
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"aa_length": 1333,
"cds_start": 2348,
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"cdna_start": 2885,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
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