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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-136222467-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136222467&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136222467,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024597.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.His738Arg",
"transcript": "NM_024597.4",
"protein_id": "NP_078873.2",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 876,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316077.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024597.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.His738Arg",
"transcript": "ENST00000316077.14",
"protein_id": "ENSP00000318086.9",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 876,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024597.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316077.14"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.His703Arg",
"transcript": "ENST00000370661.5",
"protein_id": "ENSP00000359695.1",
"transcript_support_level": 1,
"aa_start": 703,
"aa_end": null,
"aa_length": 841,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370661.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.His697Arg",
"transcript": "ENST00000370660.3",
"protein_id": "ENSP00000359694.3",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 801,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370660.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2243A>G",
"hgvs_p": "p.His748Arg",
"transcript": "ENST00000945657.1",
"protein_id": "ENSP00000615716.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 886,
"cds_start": 2243,
"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": "ENST00000945657.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.His738Arg",
"transcript": "ENST00000937867.1",
"protein_id": "ENSP00000607926.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 876,
"cds_start": 2213,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937867.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2210A>G",
"hgvs_p": "p.His737Arg",
"transcript": "ENST00000937863.1",
"protein_id": "ENSP00000607922.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 875,
"cds_start": 2210,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937863.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2207A>G",
"hgvs_p": "p.His736Arg",
"transcript": "ENST00000937864.1",
"protein_id": "ENSP00000607923.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 874,
"cds_start": 2207,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937864.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.His720Arg",
"transcript": "NM_001173516.1",
"protein_id": "NP_001166987.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 858,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173516.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2159A>G",
"hgvs_p": "p.His720Arg",
"transcript": "ENST00000370663.9",
"protein_id": "ENSP00000359697.5",
"transcript_support_level": 2,
"aa_start": 720,
"aa_end": null,
"aa_length": 858,
"cds_start": 2159,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370663.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2150A>G",
"hgvs_p": "p.His717Arg",
"transcript": "ENST00000937865.1",
"protein_id": "ENSP00000607924.1",
"transcript_support_level": null,
"aa_start": 717,
"aa_end": null,
"aa_length": 855,
"cds_start": 2150,
"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": "ENST00000937865.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2108A>G",
"hgvs_p": "p.His703Arg",
"transcript": "NM_001173517.2",
"protein_id": "NP_001166988.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 841,
"cds_start": 2108,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001173517.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.2087A>G",
"hgvs_p": "p.His696Arg",
"transcript": "ENST00000937866.1",
"protein_id": "ENSP00000607925.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 834,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937866.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "c.1700A>G",
"hgvs_p": "p.His567Arg",
"transcript": "ENST00000945658.1",
"protein_id": "ENSP00000615717.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 705,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945658.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "n.329A>G",
"hgvs_p": null,
"transcript": "ENST00000489788.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000489788.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"hgvs_c": "n.700A>G",
"hgvs_p": null,
"transcript": "ENST00000495432.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000495432.1"
}
],
"gene_symbol": "MAP7D3",
"gene_hgnc_id": 25742,
"dbsnp": "rs1377500420",
"frequency_reference_population": 0.0000024990754,
"hom_count_reference_population": 1,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000183784,
"gnomad_genomes_af": 0.00000891178,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08069321513175964,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.069,
"revel_prediction": "Benign",
"alphamissense_score": 0.0782,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.578,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024597.4",
"gene_symbol": "MAP7D3",
"hgnc_id": 25742,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.2213A>G",
"hgvs_p": "p.His738Arg"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}