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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: 16-21000377-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=21000377&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAH3",
"hgnc_id": 2949,
"hgvs_c": "c.6268C>T",
"hgvs_p": "p.His2090Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_017539.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1169,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20040789246559143,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4070,
"aa_ref": "H",
"aa_start": 2044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12567,
"cdna_start": 6441,
"cds_end": null,
"cds_length": 12213,
"cds_start": 6130,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001347886.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6130C>T",
"hgvs_p": "p.His2044Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000698260.1",
"protein_coding": true,
"protein_id": "NP_001334815.1",
"strand": false,
"transcript": "NM_001347886.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4070,
"aa_ref": "H",
"aa_start": 2044,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12567,
"cdna_start": 6441,
"cds_end": null,
"cds_length": 12213,
"cds_start": 6130,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000698260.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6130C>T",
"hgvs_p": "p.His2044Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001347886.2",
"protein_coding": true,
"protein_id": "ENSP00000513632.1",
"strand": false,
"transcript": "ENST00000698260.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4116,
"aa_ref": "H",
"aa_start": 2090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12394,
"cdna_start": 6268,
"cds_end": null,
"cds_length": 12351,
"cds_start": 6268,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000261383.3",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6268C>T",
"hgvs_p": "p.His2090Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261383.3",
"strand": false,
"transcript": "ENST00000261383.3",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4130,
"aa_ref": "H",
"aa_start": 2104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12436,
"cdna_start": 6310,
"cds_end": null,
"cds_length": 12393,
"cds_start": 6310,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000685858.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6310C>T",
"hgvs_p": "p.His2104Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508756.1",
"strand": false,
"transcript": "ENST00000685858.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4116,
"aa_ref": "H",
"aa_start": 2090,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12394,
"cdna_start": 6268,
"cds_end": null,
"cds_length": 12351,
"cds_start": 6268,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_017539.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6268C>T",
"hgvs_p": "p.His2090Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060009.1",
"strand": false,
"transcript": "NM_017539.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4130,
"aa_ref": "H",
"aa_start": 2104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12454,
"cdna_start": 6328,
"cds_end": null,
"cds_length": 12393,
"cds_start": 6310,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017023432.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6310C>T",
"hgvs_p": "p.His2104Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878921.1",
"strand": false,
"transcript": "XM_017023432.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4077,
"aa_ref": "H",
"aa_start": 2051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12743,
"cdna_start": 6617,
"cds_end": null,
"cds_length": 12234,
"cds_start": 6151,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011545882.3",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6151C>T",
"hgvs_p": "p.His2051Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544184.1",
"strand": false,
"transcript": "XM_011545882.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4077,
"aa_ref": "H",
"aa_start": 2051,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12740,
"cdna_start": 6614,
"cds_end": null,
"cds_length": 12234,
"cds_start": 6151,
"consequences": [
"missense_variant"
],
"exon_count": 63,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011545883.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6151C>T",
"hgvs_p": "p.His2051Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544185.1",
"strand": false,
"transcript": "XM_011545883.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4070,
"aa_ref": "H",
"aa_start": 2044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13167,
"cdna_start": 7041,
"cds_end": null,
"cds_length": 12213,
"cds_start": 6130,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_047434348.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6130C>T",
"hgvs_p": "p.His2044Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290304.1",
"strand": false,
"transcript": "XM_047434348.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 4032,
"aa_ref": "H",
"aa_start": 2006,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12608,
"cdna_start": 6482,
"cds_end": null,
"cds_length": 12099,
"cds_start": 6016,
"consequences": [
"missense_variant"
],
"exon_count": 62,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017023426.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6016C>T",
"hgvs_p": "p.His2006Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878915.1",
"strand": false,
"transcript": "XM_017023426.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 3996,
"aa_ref": "H",
"aa_start": 1970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12500,
"cdna_start": 6374,
"cds_end": null,
"cds_length": 11991,
"cds_start": 5908,
"consequences": [
"missense_variant"
],
"exon_count": 61,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017023427.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.5908C>T",
"hgvs_p": "p.His1970Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878916.1",
"strand": false,
"transcript": "XM_017023427.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 3989,
"aa_ref": "H",
"aa_start": 1963,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12946,
"cdna_start": 6820,
"cds_end": null,
"cds_length": 11970,
"cds_start": 5887,
"consequences": [
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],
"exon_count": 60,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "XM_047434349.1",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.5887C>T",
"hgvs_p": "p.His1963Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290305.1",
"strand": false,
"transcript": "XM_047434349.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 6617,
"cds_end": null,
"cds_length": 11316,
"cds_start": 6151,
"consequences": [
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],
"exon_count": 60,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011545885.4",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6151C>T",
"hgvs_p": "p.His2051Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544187.1",
"strand": false,
"transcript": "XM_011545885.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 3740,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11573,
"cdna_start": 5447,
"cds_end": null,
"cds_length": 11223,
"cds_start": 5140,
"consequences": [
"missense_variant"
],
"exon_count": 55,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_011545886.3",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.5140C>T",
"hgvs_p": "p.His1714Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544188.1",
"strand": false,
"transcript": "XM_011545886.3",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 9791,
"cdna_start": 3665,
"cds_end": null,
"cds_length": 9636,
"cds_start": 3553,
"consequences": [
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],
"exon_count": 45,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011545888.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.3553C>T",
"hgvs_p": "p.His1185Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544190.1",
"strand": false,
"transcript": "XM_011545888.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 3211,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9755,
"cdna_start": 3629,
"cds_end": null,
"cds_length": 9636,
"cds_start": 3553,
"consequences": [
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],
"exon_count": 45,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_011545889.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.3553C>T",
"hgvs_p": "p.His1185Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011544191.1",
"strand": false,
"transcript": "XM_011545889.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 2324,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 6617,
"cds_end": null,
"cds_length": 6975,
"cds_start": 6151,
"consequences": [
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],
"exon_count": 49,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017023429.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.6151C>T",
"hgvs_p": "p.His2051Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878918.1",
"strand": false,
"transcript": "XM_017023429.2",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_start": 290,
"cds_end": null,
"cds_length": 6288,
"cds_start": 205,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017023430.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.205C>T",
"hgvs_p": "p.His69Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878919.1",
"strand": false,
"transcript": "XM_017023430.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12164,
"cdna_start": null,
"cds_end": null,
"cds_length": 11655,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 60,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017023428.2",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "c.5906-12312C>T",
"hgvs_p": null,
"intron_rank": 42,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016878917.1",
"strand": false,
"transcript": "XM_017023428.2",
"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": 3736,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000572640.5",
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"hgvs_c": "n.2979C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000572640.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs193921090",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 2949,
"gene_symbol": "DNAH3",
"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,
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"phylop100way_prediction": "Benign",
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"splice_prediction_selected": "Benign",
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"transcript": "NM_017539.2"
}
]
}