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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: 4-74158199-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=74158199&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 74158199,
"ref": "T",
"alt": "A",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001004346.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "NM_001144978.3",
"protein_id": "NP_001138450.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 347,
"cds_start": 61,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": "ENST00000325278.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144978.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "ENST00000325278.7",
"protein_id": "ENSP00000321984.7",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 347,
"cds_start": 61,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": "NM_001144978.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325278.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "n.82T>A",
"hgvs_p": null,
"transcript": "ENST00000461101.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "n.-32+14732T>A",
"hgvs_p": null,
"transcript": "ENST00000429335.5",
"protein_id": "ENSP00000409391.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429335.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "n.81-1856T>A",
"hgvs_p": null,
"transcript": "ENST00000433372.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1407,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000433372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-148T>A",
"hgvs_p": null,
"transcript": "NM_001004346.4",
"protein_id": "NP_001004346.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004346.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-535T>A",
"hgvs_p": null,
"transcript": "NM_001351314.2",
"protein_id": "NP_001338243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351314.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "ENST00000395759.6",
"protein_id": "ENSP00000379108.2",
"transcript_support_level": 5,
"aa_start": 21,
"aa_end": null,
"aa_length": 347,
"cds_start": 61,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 88,
"cdna_end": null,
"cdna_length": 2354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395759.6"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "ENST00000887811.1",
"protein_id": "ENSP00000557870.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 305,
"cds_start": 61,
"cds_end": null,
"cds_length": 918,
"cdna_start": 93,
"cdna_end": null,
"cdna_length": 1487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887811.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "ENST00000963607.1",
"protein_id": "ENSP00000633666.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 260,
"cds_start": 61,
"cds_end": null,
"cds_length": 783,
"cdna_start": 72,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963607.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "NM_001351329.2",
"protein_id": "NP_001338258.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 78,
"cds_start": 61,
"cds_end": null,
"cds_length": 237,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351329.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "NM_001351331.2",
"protein_id": "NP_001338260.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 74,
"cds_start": 61,
"cds_end": null,
"cds_length": 225,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351331.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.370T>A",
"hgvs_p": "p.Leu124Met",
"transcript": "XM_017008218.3",
"protein_id": "XP_016863707.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 456,
"cds_start": 370,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 4483,
"cdna_end": null,
"cdna_length": 6830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008218.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "XM_017008219.3",
"protein_id": "XP_016863708.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 305,
"cds_start": 61,
"cds_end": null,
"cds_length": 918,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008219.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "XM_047415710.1",
"protein_id": "XP_047271666.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 291,
"cds_start": 61,
"cds_end": null,
"cds_length": 876,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 1004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415710.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "XM_017008220.3",
"protein_id": "XP_016863709.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 286,
"cds_start": 61,
"cds_end": null,
"cds_length": 861,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008220.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "XM_047415711.1",
"protein_id": "XP_047271667.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 286,
"cds_start": 61,
"cds_end": null,
"cds_length": 861,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415711.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.61T>A",
"hgvs_p": "p.Leu21Met",
"transcript": "XM_017008222.3",
"protein_id": "XP_016863711.2",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 283,
"cds_start": 61,
"cds_end": null,
"cds_length": 852,
"cdna_start": 82,
"cdna_end": null,
"cdna_length": 10132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008222.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-148T>A",
"hgvs_p": null,
"transcript": "NM_001004346.4",
"protein_id": "NP_001004346.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 289,
"cds_start": null,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001004346.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-535T>A",
"hgvs_p": null,
"transcript": "NM_001351314.2",
"protein_id": "NP_001338243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 220,
"cds_start": null,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351314.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-65-1856T>A",
"hgvs_p": null,
"transcript": "NM_001351310.2",
"protein_id": "NP_001338239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1699,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351310.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-31-16307T>A",
"hgvs_p": null,
"transcript": "NM_001351311.2",
"protein_id": "NP_001338240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": null,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1665,
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{
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}