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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: 14-64449512-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64449512&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64449512,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001364837.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "NM_005956.4",
"protein_id": "NP_005947.3",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 935,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000652337.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005956.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "ENST00000652337.1",
"protein_id": "ENSP00000498336.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 935,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005956.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652337.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB25",
"gene_hgnc_id": 13112,
"hgvs_c": "c.*39C>T",
"hgvs_p": null,
"transcript": "ENST00000555220.5",
"protein_id": "ENSP00000450718.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555220.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "NM_001364837.1",
"protein_id": "NP_001351766.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 964,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364837.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "ENST00000545908.6",
"protein_id": "ENSP00000438588.2",
"transcript_support_level": 2,
"aa_start": 783,
"aa_end": null,
"aa_length": 964,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545908.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Val810Met",
"transcript": "ENST00000900031.1",
"protein_id": "ENSP00000570090.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 962,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900031.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Val800Met",
"transcript": "ENST00000940490.1",
"protein_id": "ENSP00000610549.1",
"transcript_support_level": null,
"aa_start": 800,
"aa_end": null,
"aa_length": 952,
"cds_start": 2398,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940490.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "ENST00000940495.1",
"protein_id": "ENSP00000610554.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 935,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940495.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "ENST00000941180.1",
"protein_id": "ENSP00000611239.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 935,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941180.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Val780Met",
"transcript": "ENST00000900023.1",
"protein_id": "ENSP00000570082.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 932,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900023.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2320G>A",
"hgvs_p": "p.Val774Met",
"transcript": "ENST00000940488.1",
"protein_id": "ENSP00000610547.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 926,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2781,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940488.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "ENST00000557370.3",
"protein_id": "ENSP00000477199.2",
"transcript_support_level": 2,
"aa_start": 783,
"aa_end": null,
"aa_length": 922,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557370.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2278G>A",
"hgvs_p": "p.Val760Met",
"transcript": "ENST00000900025.1",
"protein_id": "ENSP00000570084.1",
"transcript_support_level": null,
"aa_start": 760,
"aa_end": null,
"aa_length": 912,
"cds_start": 2278,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900025.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2206G>A",
"hgvs_p": "p.Val736Met",
"transcript": "ENST00000940494.1",
"protein_id": "ENSP00000610553.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 888,
"cds_start": 2206,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940494.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2200G>A",
"hgvs_p": "p.Val734Met",
"transcript": "ENST00000940489.1",
"protein_id": "ENSP00000610548.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 886,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940489.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met",
"transcript": "ENST00000697168.1",
"protein_id": "ENSP00000513156.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 884,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697168.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2194G>A",
"hgvs_p": "p.Val732Met",
"transcript": "ENST00000940486.1",
"protein_id": "ENSP00000610545.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 884,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940486.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Val713Met",
"transcript": "ENST00000940485.1",
"protein_id": "ENSP00000610544.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 865,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940485.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2107G>A",
"hgvs_p": "p.Val703Met",
"transcript": "ENST00000900024.1",
"protein_id": "ENSP00000570083.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 855,
"cds_start": 2107,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900024.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Met",
"transcript": "ENST00000554768.6",
"protein_id": "ENSP00000477501.2",
"transcript_support_level": 4,
"aa_start": 702,
"aa_end": null,
"aa_length": 854,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554768.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Met",
"transcript": "ENST00000557539.2",
"protein_id": "ENSP00000476468.2",
"transcript_support_level": 4,
"aa_start": 702,
"aa_end": null,
"aa_length": 854,
"cds_start": 2104,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557539.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.2104G>A",
"hgvs_p": "p.Val702Met",
"transcript": "ENST00000697173.1",
"protein_id": "ENSP00000513159.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 854,
"cds_start": 2104,
"cds_end": null,
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{
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{
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],
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000697176.1"
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],
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"dbsnp": "rs1029133044",
"frequency_reference_population": 0.0000068406657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684067,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7921679615974426,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.401,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2161,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.13,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001364837.1",
"gene_symbol": "MTHFD1",
"hgnc_id": 7432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2347G>A",
"hgvs_p": "p.Val783Met"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001304508.1",
"gene_symbol": "ZBTB25",
"hgnc_id": 13112,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*39C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}