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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: X-32217034-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=32217034&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 32217034,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000357033.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "NM_004006.3",
"protein_id": "NP_003997.2",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 3685,
"cds_start": 6320,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 6557,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "ENST00000357033.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "ENST00000357033.9",
"protein_id": "ENSP00000354923.3",
"transcript_support_level": 1,
"aa_start": 2107,
"aa_end": null,
"aa_length": 3685,
"cds_start": 6320,
"cds_end": null,
"cds_length": 11058,
"cdna_start": 6557,
"cdna_end": null,
"cdna_length": 13992,
"mane_select": "NM_004006.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6308G>A",
"hgvs_p": "p.Arg2103Gln",
"transcript": "NM_004009.3",
"protein_id": "NP_004000.1",
"transcript_support_level": null,
"aa_start": 2103,
"aa_end": null,
"aa_length": 3681,
"cds_start": 6308,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 6571,
"cdna_end": null,
"cdna_length": 14000,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6308G>A",
"hgvs_p": "p.Arg2103Gln",
"transcript": "ENST00000378677.6",
"protein_id": "ENSP00000367948.2",
"transcript_support_level": 5,
"aa_start": 2103,
"aa_end": null,
"aa_length": 3681,
"cds_start": 6308,
"cds_end": null,
"cds_length": 11046,
"cdna_start": 6503,
"cdna_end": null,
"cdna_length": 13932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6296G>A",
"hgvs_p": "p.Arg2099Gln",
"transcript": "NM_000109.4",
"protein_id": "NP_000100.3",
"transcript_support_level": null,
"aa_start": 2099,
"aa_end": null,
"aa_length": 3677,
"cds_start": 6296,
"cds_end": null,
"cds_length": 11034,
"cdna_start": 6419,
"cdna_end": null,
"cdna_length": 13854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.5951G>A",
"hgvs_p": "p.Arg1984Gln",
"transcript": "NM_004010.3",
"protein_id": "NP_004001.1",
"transcript_support_level": null,
"aa_start": 1984,
"aa_end": null,
"aa_length": 3562,
"cds_start": 5951,
"cds_end": null,
"cds_length": 10689,
"cdna_start": 6654,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2297G>A",
"hgvs_p": "p.Arg766Gln",
"transcript": "NM_004011.4",
"protein_id": "NP_004002.3",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 2344,
"cds_start": 2297,
"cds_end": null,
"cds_length": 7035,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 9751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2288G>A",
"hgvs_p": "p.Arg763Gln",
"transcript": "NM_004012.4",
"protein_id": "NP_004003.2",
"transcript_support_level": null,
"aa_start": 763,
"aa_end": null,
"aa_length": 2341,
"cds_start": 2288,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 9894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.2288G>A",
"hgvs_p": "p.Arg763Gln",
"transcript": "ENST00000619831.5",
"protein_id": "ENSP00000479270.2",
"transcript_support_level": 5,
"aa_start": 763,
"aa_end": null,
"aa_length": 2341,
"cds_start": 2288,
"cds_end": null,
"cds_length": 7026,
"cdna_start": 2468,
"cdna_end": null,
"cdna_length": 9903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.1166G>A",
"hgvs_p": "p.Arg389Gln",
"transcript": "ENST00000358062.7",
"protein_id": "ENSP00000350765.3",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 1972,
"cds_start": 1166,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 8531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_006724468.3",
"protein_id": "XP_006724531.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 3703,
"cds_start": 6320,
"cds_end": null,
"cds_length": 11112,
"cdna_start": 6557,
"cdna_end": null,
"cdna_length": 13960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6296G>A",
"hgvs_p": "p.Arg2099Gln",
"transcript": "XM_006724469.4",
"protein_id": "XP_006724532.1",
"transcript_support_level": null,
"aa_start": 2099,
"aa_end": null,
"aa_length": 3695,
"cds_start": 6296,
"cds_end": null,
"cds_length": 11088,
"cdna_start": 6419,
"cdna_end": null,
"cdna_length": 13822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_006724470.4",
"protein_id": "XP_006724533.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 3690,
"cds_start": 6320,
"cds_end": null,
"cds_length": 11073,
"cdna_start": 6557,
"cdna_end": null,
"cdna_length": 13921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
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"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_017029328.2",
"protein_id": "XP_016884817.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6197G>A",
"hgvs_p": "p.Arg2066Gln",
"transcript": "XM_011545467.2",
"protein_id": "XP_011543769.1",
"transcript_support_level": null,
"aa_start": 2066,
"aa_end": null,
"aa_length": 3662,
"cds_start": 6197,
"cds_end": null,
"cds_length": 10989,
"cdna_start": 6434,
"cdna_end": null,
"cdna_length": 13837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 77,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6182G>A",
"hgvs_p": "p.Arg2061Gln",
"transcript": "XM_006724473.3",
"protein_id": "XP_006724536.1",
"transcript_support_level": null,
"aa_start": 2061,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_006724474.4",
"protein_id": "XP_006724537.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 3593,
"cds_start": 6320,
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"cds_length": 10782,
"cdna_start": 6557,
"cdna_end": null,
"cdna_length": 13630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_006724475.3",
"protein_id": "XP_006724538.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 3575,
"cds_start": 6320,
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"cdna_start": 6557,
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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": [
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],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 68,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_011545468.3",
"protein_id": "XP_011543770.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_017029329.2",
"protein_id": "XP_016884818.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln",
"transcript": "XM_017029330.3",
"protein_id": "XP_016884819.1",
"transcript_support_level": null,
"aa_start": 2107,
"aa_end": null,
"aa_length": 2160,
"cds_start": 6320,
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"cdna_start": 6557,
"cdna_end": null,
"cdna_length": 10835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "DMD",
"gene_hgnc_id": 2928,
"hgvs_c": "n.365G>A",
"hgvs_p": null,
"transcript": "ENST00000488902.5",
"protein_id": null,
"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": 771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DMD",
"gene_hgnc_id": 2928,
"dbsnp": "rs142807436",
"frequency_reference_population": 0.00019793157,
"hom_count_reference_population": 75,
"allele_count_reference_population": 239,
"gnomad_exomes_af": 0.000183366,
"gnomad_genomes_af": 0.000341358,
"gnomad_exomes_ac": 201,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.028083086013793945,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1195,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.387,
"phylop100way_prediction": "Benign",
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000357033.9",
"gene_symbol": "DMD",
"hgnc_id": 2928,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.6320G>A",
"hgvs_p": "p.Arg2107Gln"
}
],
"clinvar_disease": "Becker muscular dystrophy,Cardiomyopathy,Cardiovascular phenotype,DMD-related disorder,Dilated cardiomyopathy 3B,Duchenne muscular dystrophy,Dystrophin deficiency,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:5 B:2",
"phenotype_combined": "not provided|Cardiomyopathy|Duchenne muscular dystrophy|Dilated cardiomyopathy 3B|Becker muscular dystrophy;Cardiomyopathy;Duchenne muscular dystrophy;Dystrophin deficiency|not specified|Cardiovascular phenotype|DMD-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}