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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: 2-174750141-GAC-TAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174750141&ref=GAC&alt=TAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CHRNA1",
"hgnc_id": 1955,
"hgvs_c": "c.880_882delGTCinsCTA",
"hgvs_p": "p.Val294Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001039523.3",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000236449",
"hgnc_id": null,
"hgvs_c": "n.321+20317_321+20319delGACinsTAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000442996.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": "L",
"aa_end": null,
"aa_length": 457,
"aa_ref": "V",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1374,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000079.4",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.805_807delGTCinsCTA",
"hgvs_p": "p.Val269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000348749.9",
"protein_coding": true,
"protein_id": "NP_000070.1",
"strand": false,
"transcript": "NM_000079.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 457,
"aa_ref": "V",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1984,
"cdna_start": 885,
"cds_end": null,
"cds_length": 1374,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348749.9",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.805_807delGTCinsCTA",
"hgvs_p": "p.Val269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000079.4",
"protein_coding": true,
"protein_id": "ENSP00000261008.5",
"strand": false,
"transcript": "ENST00000348749.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000442996.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.321+20317_321+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000442996.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "V",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1449,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001039523.3",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.880_882delGTCinsCTA",
"hgvs_p": "p.Val294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001034612.1",
"strand": false,
"transcript": "NM_001039523.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 482,
"aa_ref": "V",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1449,
"cds_start": 880,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261007.9",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.880_882delGTCinsCTA",
"hgvs_p": "p.Val294Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261007.5",
"strand": false,
"transcript": "ENST00000261007.9",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 377,
"aa_ref": "V",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1134,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409219.5",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.805_807delGTCinsCTA",
"hgvs_p": "p.Val269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386611.1",
"strand": false,
"transcript": "ENST00000409219.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1460,
"cdna_start": 579,
"cds_end": null,
"cds_length": 1128,
"cds_start": 559,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409542.5",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.559_561delGTCinsCTA",
"hgvs_p": "p.Val187Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387026.1",
"strand": false,
"transcript": "ENST00000409542.5",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "V",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": 988,
"cds_end": null,
"cds_length": 885,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636168.2",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.316_318delGTCinsCTA",
"hgvs_p": "p.Val106Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490338.2",
"strand": false,
"transcript": "ENST00000636168.2",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "V",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 885,
"cds_start": 316,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672640.1",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.316_318delGTCinsCTA",
"hgvs_p": "p.Val106Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500507.1",
"strand": false,
"transcript": "ENST00000672640.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 489,
"aa_ref": "V",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 1470,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003256.2",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.901_903delGTCinsCTA",
"hgvs_p": "p.Val301Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858745.1",
"strand": false,
"transcript": "XM_017003256.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 1035,
"cds_end": null,
"cds_length": 1395,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003257.2",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "c.826_828delGTCinsCTA",
"hgvs_p": "p.Val276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858746.1",
"strand": false,
"transcript": "XM_017003257.2",
"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": 1596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000435083.5",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "n.*449_*451delGTCinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395805.1",
"strand": false,
"transcript": "ENST00000435083.5",
"transcript_support_level": 3
},
{
"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": 1596,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000435083.5",
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"hgvs_c": "n.*449_*451delGTCinsCTA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395805.1",
"strand": false,
"transcript": "ENST00000435083.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 823,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842845.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.326+20317_326+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842845.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842846.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.212+20317_212+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842846.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842847.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.319+20317_319+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842847.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842848.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.469+4839_469+4841delGACinsTAG",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842848.1",
"transcript_support_level": null
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1158,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842849.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.231+20317_231+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842849.1",
"transcript_support_level": null
},
{
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"aa_length": null,
"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1295,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842853.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.368+20317_368+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842853.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1062,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000842854.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000236449",
"hgvs_c": "n.135+20317_135+20319delGACinsTAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000842854.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 1955,
"gene_symbol": "CHRNA1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
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}
]
}