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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: 3-57446258-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=57446258&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 57446258,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001366028.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "NM_001366028.2",
"protein_id": "NP_001352957.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3960,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11883,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 12145,
"mane_select": "ENST00000495027.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366028.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "ENST00000495027.6",
"protein_id": "ENSP00000418137.2",
"transcript_support_level": 5,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3960,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11883,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 12145,
"mane_select": "NM_001366028.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495027.6"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3883C>A",
"hgvs_p": "p.Leu1295Met",
"transcript": "ENST00000351747.6",
"protein_id": "ENSP00000295937.3",
"transcript_support_level": 5,
"aa_start": 1295,
"aa_end": null,
"aa_length": 3092,
"cds_start": 3883,
"cds_end": null,
"cds_length": 9279,
"cdna_start": 4064,
"cdna_end": null,
"cdna_length": 9542,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351747.6"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "XM_047447666.1",
"protein_id": "XP_047303622.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3960,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11883,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 12629,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447666.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "XM_047447667.1",
"protein_id": "XP_047303623.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3960,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11883,
"cdna_start": 4597,
"cdna_end": null,
"cdna_length": 12609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447667.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 75,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "XM_011533468.2",
"protein_id": "XP_011531770.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3939,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11820,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 12566,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533468.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 74,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "XM_047447668.1",
"protein_id": "XP_047303624.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3913,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11742,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 12488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447668.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 72,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "XM_017005860.2",
"protein_id": "XP_016861349.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3816,
"cds_start": 3952,
"cds_end": null,
"cds_length": 11451,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 12328,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005860.2"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 63,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.2452C>A",
"hgvs_p": "p.Leu818Met",
"transcript": "XM_047447669.1",
"protein_id": "XP_047303625.1",
"transcript_support_level": null,
"aa_start": 818,
"aa_end": null,
"aa_length": 3460,
"cds_start": 2452,
"cds_end": null,
"cds_length": 10383,
"cdna_start": 2525,
"cdna_end": null,
"cdna_length": 10537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447669.1"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met",
"transcript": "XM_011533471.3",
"protein_id": "XP_011531773.1",
"transcript_support_level": null,
"aa_start": 1318,
"aa_end": null,
"aa_length": 3144,
"cds_start": 3952,
"cds_end": null,
"cds_length": 9435,
"cdna_start": 4617,
"cdna_end": null,
"cdna_length": 10460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533471.3"
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"hgvs_c": "c.544C>A",
"hgvs_p": "p.Leu182Met",
"transcript": "XM_017005862.2",
"protein_id": "XP_016861351.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 2824,
"cds_start": 544,
"cds_end": null,
"cds_length": 8475,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 8717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005862.2"
}
],
"gene_symbol": "DNAH12",
"gene_hgnc_id": 2943,
"dbsnp": "rs2121743",
"frequency_reference_population": 7.14783e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.14783e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4847683608531952,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.452,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6015,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.162,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001366028.2",
"gene_symbol": "DNAH12",
"hgnc_id": 2943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3952C>A",
"hgvs_p": "p.Leu1318Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}