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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: 14-102044458-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=102044458&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"PP3",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DYNC1H1",
"hgnc_id": 2961,
"hgvs_c": "c.12869G>A",
"hgvs_p": "p.Gly4290Glu",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 2,
"transcript": "NM_001376.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"PP3",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000293472",
"hgnc_id": null,
"hgvs_c": "n.346+5987C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 2,
"transcript": "ENST00000553701.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,BP6",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.574,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Charcot-Marie-Tooth disease axonal type 2O,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7533575892448425,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4646,
"aa_ref": "G",
"aa_start": 4290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19940,
"cdna_start": 12988,
"cds_end": null,
"cds_length": 13941,
"cds_start": 12869,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "NM_001376.5",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12869G>A",
"hgvs_p": "p.Gly4290Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360184.10",
"protein_coding": true,
"protein_id": "NP_001367.2",
"strand": true,
"transcript": "NM_001376.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4646,
"aa_ref": "G",
"aa_start": 4290,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 19940,
"cdna_start": 12988,
"cds_end": null,
"cds_length": 13941,
"cds_start": 12869,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000360184.10",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12869G>A",
"hgvs_p": "p.Gly4290Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001376.5",
"protein_coding": true,
"protein_id": "ENSP00000348965.4",
"strand": true,
"transcript": "ENST00000360184.10",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4672,
"aa_ref": "G",
"aa_start": 4290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14519,
"cdna_start": 12988,
"cds_end": null,
"cds_length": 14019,
"cds_start": 12869,
"consequences": [
"missense_variant"
],
"exon_count": 77,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000681574.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12869G>A",
"hgvs_p": "p.Gly4290Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505523.1",
"strand": true,
"transcript": "ENST00000681574.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4637,
"aa_ref": "G",
"aa_start": 4290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19903,
"cdna_start": 12988,
"cds_end": null,
"cds_length": 13914,
"cds_start": 12869,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000679720.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12869G>A",
"hgvs_p": "p.Gly4290Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505938.1",
"strand": true,
"transcript": "ENST00000679720.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4604,
"aa_ref": "G",
"aa_start": 4290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14291,
"cdna_start": 12988,
"cds_end": null,
"cds_length": 13815,
"cds_start": 12869,
"consequences": [
"missense_variant"
],
"exon_count": 78,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000644881.2",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12869G>A",
"hgvs_p": "p.Gly4290Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495022.2",
"strand": true,
"transcript": "ENST00000644881.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4597,
"aa_ref": "G",
"aa_start": 4241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14134,
"cdna_start": 12841,
"cds_end": null,
"cds_length": 13794,
"cds_start": 12722,
"consequences": [
"missense_variant"
],
"exon_count": 77,
"exon_rank": 70,
"exon_rank_end": null,
"feature": "ENST00000645149.2",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12722G>A",
"hgvs_p": "p.Gly4241Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495944.2",
"strand": true,
"transcript": "ENST00000645149.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 4493,
"aa_ref": "G",
"aa_start": 4137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19477,
"cdna_start": 12527,
"cds_end": null,
"cds_length": 13482,
"cds_start": 12410,
"consequences": [
"missense_variant"
],
"exon_count": 76,
"exon_rank": 69,
"exon_rank_end": null,
"feature": "ENST00000919473.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "c.12410G>A",
"hgvs_p": "p.Gly4137Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589532.1",
"strand": true,
"transcript": "ENST00000919473.1",
"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": 1315,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000642716.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.906G>A",
"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": "ENST00000642716.1",
"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": 4773,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000643437.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.2823G>A",
"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": "ENST00000643437.1",
"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": 2950,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000643591.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.662G>A",
"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": "ENST00000643591.1",
"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": 4050,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000643829.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.2825G>A",
"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": "ENST00000643829.1",
"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": 2298,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644239.2",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.1005G>A",
"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": "ENST00000644239.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000644794.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.2988G>A",
"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": "ENST00000644794.1",
"transcript_support_level": null
},
{
"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": 14031,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 76,
"exon_rank": 69,
"exon_rank_end": null,
"feature": "ENST00000645039.2",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.*720G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495220.2",
"strand": true,
"transcript": "ENST00000645039.2",
"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": 2397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000645085.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.1115G>A",
"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": "ENST00000645085.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000646418.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.1326G>A",
"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": "ENST00000646418.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4235,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000647204.2",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.2205G>A",
"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": "ENST00000647204.2",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 44,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000647366.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.6423G>A",
"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": "ENST00000647366.1",
"transcript_support_level": null
},
{
"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": 13534,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 71,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000679486.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.*857G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506688.1",
"strand": true,
"transcript": "ENST00000679486.1",
"transcript_support_level": null
},
{
"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": 14277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 78,
"exon_rank": 71,
"exon_rank_end": null,
"feature": "ENST00000679910.1",
"gene_hgnc_id": 2961,
"gene_symbol": "DYNC1H1",
"hgvs_c": "n.*3951G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506521.1",
"strand": true,
"transcript": "ENST00000679910.1",
"transcript_support_level": null
},
{
"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": 14261,
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