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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: 11-77842549-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77842549&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77842549,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024684.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_024684.4",
"protein_id": "NP_078960.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 522,
"mane_select": "ENST00000393427.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000393427.7",
"protein_id": "ENSP00000377078.2",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 522,
"mane_select": "NM_024684.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000304716.12",
"protein_id": "ENSP00000307254.8",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 147,
"cds_start": 53,
"cds_end": null,
"cds_length": 444,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000532481.5",
"protein_id": "ENSP00000433293.1",
"transcript_support_level": 1,
"aa_start": 18,
"aa_end": null,
"aa_length": 88,
"cds_start": 53,
"cds_end": null,
"cds_length": 267,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392031.1",
"protein_id": "NP_001378960.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 168,
"cds_start": 53,
"cds_end": null,
"cds_length": 507,
"cdna_start": 169,
"cdna_end": null,
"cdna_length": 660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392032.1",
"protein_id": "NP_001378961.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 168,
"cds_start": 53,
"cds_end": null,
"cds_length": 507,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392033.1",
"protein_id": "NP_001378962.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 168,
"cds_start": 53,
"cds_end": null,
"cds_length": 507,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000533193.5",
"protein_id": "ENSP00000436086.1",
"transcript_support_level": 5,
"aa_start": 18,
"aa_end": null,
"aa_length": 168,
"cds_start": 53,
"cds_end": null,
"cds_length": 507,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001316957.3",
"protein_id": "NP_001303886.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 147,
"cds_start": 53,
"cds_end": null,
"cds_length": 444,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001316958.3",
"protein_id": "NP_001303887.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 137,
"cds_start": 53,
"cds_end": null,
"cds_length": 414,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392034.1",
"protein_id": "NP_001378963.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 137,
"cds_start": 53,
"cds_end": null,
"cds_length": 414,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 5949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000527134.5",
"protein_id": "ENSP00000433281.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 137,
"cds_start": 53,
"cds_end": null,
"cds_length": 414,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001316960.2",
"protein_id": "NP_001303889.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001316961.2",
"protein_id": "NP_001303890.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
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"cdna_start": 207,
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"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001316962.2",
"protein_id": "NP_001303891.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 211,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001363564.2",
"protein_id": "NP_001350493.2",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
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"cdna_start": 145,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392035.1",
"protein_id": "NP_001378964.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 108,
"cdna_end": null,
"cdna_length": 461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392036.1",
"protein_id": "NP_001378965.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 150,
"cdna_end": null,
"cdna_length": 503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392037.1",
"protein_id": "NP_001378966.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
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"cdna_start": 329,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "NM_001392038.1",
"protein_id": "NP_001378967.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
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"cdna_start": 165,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000525034.1",
"protein_id": "ENSP00000432830.2",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
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"cdna_start": 158,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000526415.5",
"protein_id": "ENSP00000431808.1",
"transcript_support_level": 2,
"aa_start": 18,
"aa_end": null,
"aa_length": 122,
"cds_start": 53,
"cds_end": null,
"cds_length": 369,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"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": "AAMDC",
"gene_hgnc_id": 30205,
"hgvs_c": "c.53G>T",
"hgvs_p": "p.Gly18Val",
"transcript": "ENST00000525409.5",
"protein_id": "ENSP00000433956.1",
"transcript_support_level": 3,
"aa_start": 18,
"aa_end": null,
"aa_length": 90,
"cds_start": 53,
"cds_end": null,
"cds_length": 273,
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}