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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: 14-64425752-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64425752&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64425752,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000652337.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "NM_005956.4",
"protein_id": "NP_005947.3",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 935,
"cds_start": 878,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": "ENST00000652337.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "ENST00000652337.1",
"protein_id": "ENSP00000498336.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 935,
"cds_start": 878,
"cds_end": null,
"cds_length": 2808,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 3154,
"mane_select": "NM_005956.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.935G>A",
"hgvs_p": null,
"transcript": "ENST00000555252.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "NM_001364837.1",
"protein_id": "NP_001351766.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 964,
"cds_start": 878,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 3060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "ENST00000545908.6",
"protein_id": "ENSP00000438588.2",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 964,
"cds_start": 878,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 6814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "ENST00000557370.3",
"protein_id": "ENSP00000477199.2",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 922,
"cds_start": 878,
"cds_end": null,
"cds_length": 2769,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His",
"transcript": "ENST00000697168.1",
"protein_id": "ENSP00000513156.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 884,
"cds_start": 878,
"cds_end": null,
"cds_length": 2655,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212His",
"transcript": "ENST00000554768.6",
"protein_id": "ENSP00000477501.2",
"transcript_support_level": 4,
"aa_start": 212,
"aa_end": null,
"aa_length": 854,
"cds_start": 635,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212His",
"transcript": "ENST00000557539.2",
"protein_id": "ENSP00000476468.2",
"transcript_support_level": 4,
"aa_start": 212,
"aa_end": null,
"aa_length": 854,
"cds_start": 635,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.635G>A",
"hgvs_p": "p.Arg212His",
"transcript": "ENST00000697173.1",
"protein_id": "ENSP00000513159.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 854,
"cds_start": 635,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.629G>A",
"hgvs_p": "p.Arg210His",
"transcript": "ENST00000697174.1",
"protein_id": "ENSP00000513160.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 852,
"cds_start": 629,
"cds_end": null,
"cds_length": 2559,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Arg37His",
"transcript": "ENST00000652509.1",
"protein_id": "ENSP00000499176.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 643,
"cds_start": 110,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.182G>A",
"hgvs_p": null,
"transcript": "ENST00000553391.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.311G>A",
"hgvs_p": null,
"transcript": "ENST00000554057.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.*255G>A",
"hgvs_p": null,
"transcript": "ENST00000555709.7",
"protein_id": "ENSP00000450560.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.1027G>A",
"hgvs_p": null,
"transcript": "ENST00000555858.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.953G>A",
"hgvs_p": null,
"transcript": "ENST00000650853.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.878G>A",
"hgvs_p": null,
"transcript": "ENST00000651537.1",
"protein_id": "ENSP00000498511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.635G>A",
"hgvs_p": null,
"transcript": "ENST00000652179.1",
"protein_id": "ENSP00000498649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.1027G>A",
"hgvs_p": null,
"transcript": "ENST00000697166.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.878G>A",
"hgvs_p": null,
"transcript": "ENST00000697167.1",
"protein_id": "ENSP00000513155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.878G>A",
"hgvs_p": null,
"transcript": "ENST00000697169.1",
"protein_id": "ENSP00000513157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTHFD1",
"gene_hgnc_id": 7432,
"hgvs_c": "n.1027G>A",
"hgvs_p": null,
"transcript": "ENST00000697170.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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{
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{
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}
],
"gene_symbol": "MTHFD1",
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"dbsnp": "rs34181110",
"frequency_reference_population": 0.0026529918,
"hom_count_reference_population": 15,
"allele_count_reference_population": 4279,
"gnomad_exomes_af": 0.00267962,
"gnomad_genomes_af": 0.0023975,
"gnomad_exomes_ac": 3914,
"gnomad_genomes_ac": 365,
"gnomad_exomes_homalt": 8,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009117931127548218,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.743,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000652337.1",
"gene_symbol": "MTHFD1",
"hgnc_id": 7432,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293His"
},
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000556640.1",
"gene_symbol": "ENSG00000258824",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.506-2773C>T",
"hgvs_p": null
}
],
"clinvar_disease": " folate-sensitive, susceptibility to,Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia,Spina bifida,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "Spina bifida, folate-sensitive, susceptibility to|not provided|Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia|not specified",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}