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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: 3-52390950-AAC-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52390950&ref=AAC&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAH1",
"hgnc_id": 2940,
"hgvs_c": "c.9637_9639delAACinsTCA",
"hgvs_p": "p.Asn3213Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015512.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 4265,
"aa_ref": "N",
"aa_start": 3213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13105,
"cdna_start": 9898,
"cds_end": null,
"cds_length": 12798,
"cds_start": 9637,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015512.5",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "c.9637_9639delAACinsTCA",
"hgvs_p": "p.Asn3213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000420323.7",
"protein_coding": true,
"protein_id": "NP_056327.4",
"strand": true,
"transcript": "NM_015512.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 4265,
"aa_ref": "N",
"aa_start": 3213,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13105,
"cdna_start": 9898,
"cds_end": null,
"cds_length": 12798,
"cds_start": 9637,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000420323.7",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "c.9637_9639delAACinsTCA",
"hgvs_p": "p.Asn3213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015512.5",
"protein_coding": true,
"protein_id": "ENSP00000401514.2",
"strand": true,
"transcript": "ENST00000420323.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 191,
"aa_ref": "N",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": 71,
"cds_end": null,
"cds_length": 578,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000480649.1",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "c.70_72delAACinsTCA",
"hgvs_p": "p.Asn24Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418688.1",
"strand": true,
"transcript": "ENST00000480649.1",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 4288,
"aa_ref": "N",
"aa_start": 3236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18153,
"cdna_start": 14946,
"cds_end": null,
"cds_length": 12867,
"cds_start": 9706,
"consequences": [
"missense_variant"
],
"exon_count": 80,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006129.2",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "c.9706_9708delAACinsTCA",
"hgvs_p": "p.Asn3236Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861618.1",
"strand": true,
"transcript": "XM_017006129.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 4265,
"aa_ref": "N",
"aa_start": 3213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18084,
"cdna_start": 14877,
"cds_end": null,
"cds_length": 12798,
"cds_start": 9637,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006130.2",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "c.9637_9639delAACinsTCA",
"hgvs_p": "p.Asn3213Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861619.1",
"strand": true,
"transcript": "XM_017006130.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 4246,
"aa_ref": "N",
"aa_start": 3194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 18027,
"cdna_start": 14820,
"cds_end": null,
"cds_length": 12741,
"cds_start": 9580,
"consequences": [
"missense_variant"
],
"exon_count": 79,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017006131.2",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "c.9580_9582delAACinsTCA",
"hgvs_p": "p.Asn3194Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861620.1",
"strand": true,
"transcript": "XM_017006131.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 13300,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 77,
"exon_rank": 60,
"exon_rank_end": null,
"feature": "ENST00000486752.5",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "n.10094_10096delAACinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000486752.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000488988.5",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "n.1423_1425delAACinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000488988.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3408,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000490713.5",
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"hgvs_c": "n.337_339delAACinsTCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000419071.1",
"strand": true,
"transcript": "ENST00000490713.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2940,
"gene_symbol": "DNAH1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.974,
"pos": 52390950,
"ref": "AAC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_015512.5"
}
]
}