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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: 10-133394250-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=133394250&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 133394250,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_138384.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "NM_138384.4",
"protein_id": "NP_612393.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 334,
"cds_start": 30,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000317502.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138384.4"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000317502.11",
"protein_id": "ENSP00000323047.6",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 334,
"cds_start": 30,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138384.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317502.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.-12+66C>G",
"hgvs_p": null,
"transcript": "ENST00000477902.6",
"protein_id": "ENSP00000475596.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477902.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254536",
"gene_hgnc_id": null,
"hgvs_c": "n.*37-1463C>G",
"hgvs_p": null,
"transcript": "ENST00000468317.3",
"protein_id": "ENSP00000436767.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000468317.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254536",
"gene_hgnc_id": null,
"hgvs_c": "n.*279-1463C>G",
"hgvs_p": null,
"transcript": "ENST00000670407.1",
"protein_id": "ENSP00000499264.1",
"transcript_support_level": null,
"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": "ENST00000670407.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000851826.1",
"protein_id": "ENSP00000521885.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 343,
"cds_start": 30,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851826.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000949007.1",
"protein_id": "ENSP00000619066.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 332,
"cds_start": 30,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949007.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000949008.1",
"protein_id": "ENSP00000619067.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 318,
"cds_start": 30,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949008.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000851827.1",
"protein_id": "ENSP00000521886.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 307,
"cds_start": 30,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851827.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000432508.3",
"protein_id": "ENSP00000393480.2",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 283,
"cds_start": 30,
"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": "ENST00000432508.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000923264.1",
"protein_id": "ENSP00000593323.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 264,
"cds_start": 30,
"cds_end": null,
"cds_length": 795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923264.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000949009.1",
"protein_id": "ENSP00000619068.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 256,
"cds_start": 30,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949009.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000923263.1",
"protein_id": "ENSP00000593322.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 237,
"cds_start": 30,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "n.55C>G",
"hgvs_p": null,
"transcript": "ENST00000460848.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000460848.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "n.37C>G",
"hgvs_p": null,
"transcript": "ENST00000495014.5",
"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": "retained_intron",
"feature": "ENST00000495014.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "n.27C>G",
"hgvs_p": null,
"transcript": "ENST00000498790.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000498790.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000254536",
"gene_hgnc_id": null,
"hgvs_c": "n.1279-1463C>G",
"hgvs_p": null,
"transcript": "ENST00000664059.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000664059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"hgvs_c": "n.-23C>G",
"hgvs_p": null,
"transcript": "ENST00000473735.1",
"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": "retained_intron",
"feature": "ENST00000473735.1"
}
],
"gene_symbol": "MTG1",
"gene_hgnc_id": 32159,
"dbsnp": "rs374714619",
"frequency_reference_population": 0.00094683375,
"hom_count_reference_population": 7,
"allele_count_reference_population": 1438,
"gnomad_exomes_af": 0.000978489,
"gnomad_genomes_af": 0.00066293,
"gnomad_exomes_ac": 1337,
"gnomad_genomes_ac": 101,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004885375499725342,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.094,
"revel_prediction": "Benign",
"alphamissense_score": 0.1514,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.117,
"phylop100way_prediction": "Benign",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_138384.4",
"gene_symbol": "MTG1",
"hgnc_id": 32159,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg"
},
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000670407.1",
"gene_symbol": "ENSG00000254536",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*279-1463C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}