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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: 5-180792304-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=180792304&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 180792304,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000307826.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_002406.4",
"protein_id": "NP_002397.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": "ENST00000307826.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "ENST00000307826.5",
"protein_id": "ENSP00000311888.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": "NM_002406.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001114617.2",
"protein_id": "NP_001108089.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 8845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001114618.1",
"protein_id": "NP_001108090.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1407,
"cdna_end": null,
"cdna_length": 3170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001114619.1",
"protein_id": "NP_001108091.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001114620.1",
"protein_id": "NP_001108092.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 2858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364377.2",
"protein_id": "NP_001351306.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1881,
"cdna_end": null,
"cdna_length": 9405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364379.2",
"protein_id": "NP_001351308.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 8950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364380.2",
"protein_id": "NP_001351309.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 8939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364381.2",
"protein_id": "NP_001351310.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1416,
"cdna_end": null,
"cdna_length": 8940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364382.2",
"protein_id": "NP_001351311.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
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"cdna_start": 997,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364383.2",
"protein_id": "NP_001351312.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
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"cdna_start": 986,
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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": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364384.2",
"protein_id": "NP_001351313.1",
"transcript_support_level": null,
"aa_start": 223,
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"aa_length": 445,
"cds_start": 668,
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"cdna_start": 1248,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364385.2",
"protein_id": "NP_001351314.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364386.2",
"protein_id": "NP_001351315.1",
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"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
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"cdna_start": 1735,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364387.2",
"protein_id": "NP_001351316.1",
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},
{
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"strand": false,
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],
"exon_rank": 4,
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"intron_rank": null,
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"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364388.2",
"protein_id": "NP_001351317.1",
"transcript_support_level": null,
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"aa_length": 445,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364389.2",
"protein_id": "NP_001351318.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
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"cdna_start": 1242,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364390.2",
"protein_id": "NP_001351319.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364391.2",
"protein_id": "NP_001351320.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "MGAT1",
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"hgvs_c": "c.668G>T",
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"transcript": "NM_001364392.2",
"protein_id": "NP_001351321.1",
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364393.2",
"protein_id": "NP_001351322.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 445,
"cds_start": 668,
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"cdna_start": 1021,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MGAT1",
"gene_hgnc_id": 7044,
"hgvs_c": "c.668G>T",
"hgvs_p": "p.Arg223Leu",
"transcript": "NM_001364394.2",
"protein_id": "NP_001351323.1",
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