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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: 7-56011790-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=56011790&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 56011790,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000275605.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_004577.4",
"protein_id": "NP_004568.2",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": "ENST00000275605.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "ENST00000275605.8",
"protein_id": "ENSP00000275605.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": "NM_004577.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "ENST00000395471.7",
"protein_id": "ENSP00000378854.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370503.1",
"protein_id": "NP_001357432.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1296,
"cdna_end": null,
"cdna_length": 2022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370504.1",
"protein_id": "NP_001357433.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 1971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370505.1",
"protein_id": "NP_001357434.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370506.1",
"protein_id": "NP_001357435.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 2088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370507.1",
"protein_id": "NP_001357436.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370508.1",
"protein_id": "NP_001357437.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370509.1",
"protein_id": "NP_001357438.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370510.1",
"protein_id": "NP_001357439.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370511.1",
"protein_id": "NP_001357440.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1355,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370512.1",
"protein_id": "NP_001357441.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
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"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370513.1",
"protein_id": "NP_001357442.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370514.1",
"protein_id": "NP_001357443.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
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"cds_length": 678,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370515.1",
"protein_id": "NP_001357444.1",
"transcript_support_level": null,
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"aa_end": null,
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"cdna_start": 1549,
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"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370516.1",
"protein_id": "NP_001357445.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
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"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370517.1",
"protein_id": "NP_001357446.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1667,
"cdna_end": null,
"cdna_length": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370518.1",
"protein_id": "NP_001357447.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 225,
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"cdna_start": 1722,
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"biotype": null,
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},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370519.1",
"protein_id": "NP_001357448.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
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"cdna_start": 1406,
"cdna_end": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370520.1",
"protein_id": "NP_001357449.1",
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"aa_end": null,
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"cds_start": 650,
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"cdna_start": 1663,
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"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370521.1",
"protein_id": "NP_001357450.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
"cds_length": 678,
"cdna_start": 1656,
"cdna_end": null,
"cdna_length": 2382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSPH",
"gene_hgnc_id": 9577,
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"transcript": "NM_001370522.1",
"protein_id": "NP_001357451.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 225,
"cds_start": 650,
"cds_end": null,
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