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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: 4-74174525-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=74174525&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 74174525,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001144978.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "NM_001144978.3",
"protein_id": "NP_001138450.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 347,
"cds_start": 163,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000325278.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001144978.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "ENST00000325278.7",
"protein_id": "ENSP00000321984.7",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 347,
"cds_start": 163,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "n.-12T>C",
"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": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "n.134T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000433372.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "n.-12T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000429335.5"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "ENST00000395759.6",
"protein_id": "ENSP00000379108.2",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 347,
"cds_start": 163,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395759.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "ENST00000887811.1",
"protein_id": "ENSP00000557870.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 305,
"cds_start": 163,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887811.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"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": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "ENST00000963607.1",
"protein_id": "ENSP00000633666.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 260,
"cds_start": 163,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963607.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.472T>C",
"hgvs_p": "p.Ser158Pro",
"transcript": "XM_017008218.3",
"protein_id": "XP_016863707.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 456,
"cds_start": 472,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008218.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.85T>C",
"hgvs_p": "p.Ser29Pro",
"transcript": "XM_017008224.2",
"protein_id": "XP_016863713.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 327,
"cds_start": 85,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008224.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "XM_017008219.3",
"protein_id": "XP_016863708.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 305,
"cds_start": 163,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008219.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "XM_047415710.1",
"protein_id": "XP_047271666.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 291,
"cds_start": 163,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415710.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "XM_017008220.3",
"protein_id": "XP_016863709.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 286,
"cds_start": 163,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017008220.3"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "XM_047415711.1",
"protein_id": "XP_047271667.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 286,
"cds_start": 163,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415711.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro",
"transcript": "XM_017008222.3",
"protein_id": "XP_016863711.2",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 283,
"cds_start": 163,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-12T>C",
"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": null,
"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": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-12T>C",
"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": null,
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-12T>C",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351311.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-399T>C",
"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": null,
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-12T>C",
"hgvs_p": null,
"transcript": "XM_047415712.1",
"protein_id": "XP_047271668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-12T>C",
"hgvs_p": null,
"transcript": "XM_047415713.1",
"protein_id": "XP_047271669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415713.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD2L",
"gene_hgnc_id": 31865,
"hgvs_c": "c.-12T>C",
"hgvs_p": null,
"transcript": "XM_047415714.1",
"protein_id": "XP_047271670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": null,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415714.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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{
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],
"gene_symbol": "MTHFD2L",
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"dbsnp": "rs1300774482",
"frequency_reference_population": 0.0000014210804,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142108,
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"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.888929545879364,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2804,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.546,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001144978.3",
"gene_symbol": "MTHFD2L",
"hgnc_id": 31865,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.163T>C",
"hgvs_p": "p.Ser55Pro"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}