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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: 17-43492785-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43492785&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 43492785,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004941.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "NM_004941.3",
"protein_id": "NP_004932.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 608,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262415.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004941.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000262415.8",
"protein_id": "ENSP00000262415.2",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 1220,
"cds_start": 608,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004941.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262415.8"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000958205.1",
"protein_id": "ENSP00000628264.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1252,
"cds_start": 608,
"cds_end": null,
"cds_length": 3759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958205.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000958204.1",
"protein_id": "ENSP00000628263.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1227,
"cds_start": 608,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958204.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.602G>T",
"hgvs_p": "p.Arg201Leu",
"transcript": "NM_001322221.2",
"protein_id": "NP_001309150.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1218,
"cds_start": 602,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322221.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.602G>T",
"hgvs_p": "p.Arg201Leu",
"transcript": "ENST00000872045.1",
"protein_id": "ENSP00000542104.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1218,
"cds_start": 602,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872045.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "NM_001302623.3",
"protein_id": "NP_001289552.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1181,
"cds_start": 608,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001302623.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000540306.5",
"protein_id": "ENSP00000437886.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 1181,
"cds_start": 608,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540306.5"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.602G>T",
"hgvs_p": "p.Arg201Leu",
"transcript": "NM_001322218.3",
"protein_id": "NP_001309147.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1179,
"cds_start": 602,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322218.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000872044.1",
"protein_id": "ENSP00000542103.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1177,
"cds_start": 608,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872044.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "NM_001322219.2",
"protein_id": "NP_001309148.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1169,
"cds_start": 608,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322219.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "ENST00000589898.2",
"protein_id": "ENSP00000466900.2",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 1169,
"cds_start": 608,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589898.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu",
"transcript": "NM_001322220.3",
"protein_id": "NP_001309149.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 1152,
"cds_start": 608,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322220.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.335G>T",
"hgvs_p": "p.Arg112Leu",
"transcript": "NM_001322217.2",
"protein_id": "NP_001309146.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1129,
"cds_start": 335,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322217.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "c.-218G>T",
"hgvs_p": null,
"transcript": "NM_001322216.2",
"protein_id": "NP_001309145.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": null,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322216.2"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "n.272G>T",
"hgvs_p": null,
"transcript": "ENST00000587044.1",
"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": "ENST00000587044.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "n.608G>T",
"hgvs_p": null,
"transcript": "ENST00000650571.1",
"protein_id": "ENSP00000496923.1",
"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": "ENST00000650571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "n.690G>T",
"hgvs_p": null,
"transcript": "NR_136225.2",
"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": "pseudogene",
"feature": "NR_136225.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "n.671G>T",
"hgvs_p": null,
"transcript": "NR_136226.2",
"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": "pseudogene",
"feature": "NR_136226.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "n.671G>T",
"hgvs_p": null,
"transcript": "NR_136227.2",
"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": "pseudogene",
"feature": "NR_136227.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"hgvs_c": "n.671G>T",
"hgvs_p": null,
"transcript": "NR_136228.3",
"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": "pseudogene",
"feature": "NR_136228.3"
}
],
"gene_symbol": "DHX8",
"gene_hgnc_id": 2749,
"dbsnp": "rs149466238",
"frequency_reference_population": 0.000028500584,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000300984,
"gnomad_genomes_af": 0.0000131465,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31102049350738525,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.17,
"revel_prediction": "Benign",
"alphamissense_score": 0.4363,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.277,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004941.3",
"gene_symbol": "DHX8",
"hgnc_id": 2749,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.608G>T",
"hgvs_p": "p.Arg203Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}