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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: 14-69054463-GGG-CAA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=69054463&ref=GGG&alt=CAA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DCAF5",
"hgnc_id": 20224,
"hgvs_c": "c.2221_2223delCCCinsTTG",
"hgvs_p": "p.Pro741Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_003861.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CAA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "14",
"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": 942,
"aa_ref": "P",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003861.3",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2221_2223delCCCinsTTG",
"hgvs_p": "p.Pro741Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000341516.10",
"protein_coding": true,
"protein_id": "NP_003852.1",
"strand": false,
"transcript": "NM_003861.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 942,
"aa_ref": "P",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 2364,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000341516.10",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2221_2223delCCCinsTTG",
"hgvs_p": "p.Pro741Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003861.3",
"protein_coding": true,
"protein_id": "ENSP00000341351.5",
"strand": false,
"transcript": "ENST00000341516.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 941,
"aa_ref": "P",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000557386.5",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2218_2220delCCCinsTTG",
"hgvs_p": "p.Pro740Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451845.1",
"strand": false,
"transcript": "ENST00000557386.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 860,
"aa_ref": "P",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4803,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554215.5",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1975_1977delCCCinsTTG",
"hgvs_p": "p.Pro659Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451551.1",
"strand": false,
"transcript": "ENST00000554215.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 941,
"aa_ref": "P",
"aa_start": 740,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5982,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2826,
"cds_start": 2218,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001284206.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2218_2220delCCCinsTTG",
"hgvs_p": "p.Pro740Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271135.1",
"strand": false,
"transcript": "NM_001284206.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 883,
"aa_ref": "P",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 2652,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867406.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2044_2046delCCCinsTTG",
"hgvs_p": "p.Pro682Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537465.1",
"strand": false,
"transcript": "ENST00000867406.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 860,
"aa_ref": "P",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5738,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001284207.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1975_1977delCCCinsTTG",
"hgvs_p": "p.Pro659Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001271136.1",
"strand": false,
"transcript": "NM_001284207.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 860,
"aa_ref": "P",
"aa_start": 659,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2791,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1975,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556847.5",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1975_1977delCCCinsTTG",
"hgvs_p": "p.Pro659Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452052.1",
"strand": false,
"transcript": "ENST00000556847.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 835,
"aa_ref": "P",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5642,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1900,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000927898.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1900_1902delCCCinsTTG",
"hgvs_p": "p.Pro634Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597957.1",
"strand": false,
"transcript": "ENST00000927898.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 732,
"aa_ref": "P",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1591,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954556.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1591_1593delCCCinsTTG",
"hgvs_p": "p.Pro531Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624615.1",
"strand": false,
"transcript": "ENST00000954556.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "P",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6129,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720297.3",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2326_2328delCCCinsTTG",
"hgvs_p": "p.Pro776Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720360.1",
"strand": false,
"transcript": "XM_006720297.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 976,
"aa_ref": "P",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": 2544,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720298.3",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2323_2325delCCCinsTTG",
"hgvs_p": "p.Pro775Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720361.1",
"strand": false,
"transcript": "XM_006720298.3",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5872,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006720299.4",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2080_2082delCCCinsTTG",
"hgvs_p": "p.Pro694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720362.1",
"strand": false,
"transcript": "XM_006720299.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 895,
"aa_ref": "P",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537278.2",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2080_2082delCCCinsTTG",
"hgvs_p": "p.Pro694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535580.1",
"strand": false,
"transcript": "XM_011537278.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5806,
"cdna_start": 2224,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2080,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537279.3",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2080_2082delCCCinsTTG",
"hgvs_p": "p.Pro694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535581.1",
"strand": false,
"transcript": "XM_011537279.3",
"transcript_support_level": null
},
{
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"aa_length": 895,
"aa_ref": "P",
"aa_start": 694,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5882,
"cdna_start": 2300,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2080,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021733.2",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2080_2082delCCCinsTTG",
"hgvs_p": "p.Pro694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877222.1",
"strand": false,
"transcript": "XM_017021733.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 895,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5879,
"cdna_start": 2297,
"cds_end": null,
"cds_length": 2688,
"cds_start": 2080,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431846.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2080_2082delCCCinsTTG",
"hgvs_p": "p.Pro694Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287802.1",
"strand": false,
"transcript": "XM_047431846.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 2373,
"cds_end": null,
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"cds_start": 2080,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431847.1",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.2080_2082delCCCinsTTG",
"hgvs_p": "p.Pro694Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287803.1",
"strand": false,
"transcript": "XM_047431847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5349,
"cdna_start": 1767,
"cds_end": null,
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"cds_start": 1675,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011537280.4",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1675_1677delCCCinsTTG",
"hgvs_p": "p.Pro559Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011535582.1",
"strand": false,
"transcript": "XM_011537280.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017021737.2",
"gene_hgnc_id": 20224,
"gene_symbol": "DCAF5",
"hgvs_c": "c.1570_1572delCCCinsTTG",
"hgvs_p": "p.Pro524Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016877226.1",
"strand": false,
"transcript": "XM_017021737.2",
"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": 20224,
"gene_symbol": "DCAF5",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
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"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": 4.344,
"pos": 69054463,
"ref": "GGG",
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"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
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"transcript": "NM_003861.3"
}
]
}