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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: 11-77878963-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77878963&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "INTS4",
"hgnc_id": 25048,
"hgvs_c": "c.2878C>A",
"hgvs_p": "p.Pro960Thr",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_033547.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "AAMDC",
"hgnc_id": 30205,
"hgvs_c": "c.328+1914G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001316957.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.2474,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7254475355148315,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 963,
"aa_ref": "P",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_033547.4",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2878C>A",
"hgvs_p": "p.Pro960Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534064.6",
"protein_coding": true,
"protein_id": "NP_291025.3",
"strand": false,
"transcript": "NM_033547.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 963,
"aa_ref": "P",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000534064.6",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2878C>A",
"hgvs_p": "p.Pro960Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_033547.4",
"protein_coding": true,
"protein_id": "ENSP00000434466.1",
"strand": false,
"transcript": "ENST00000534064.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 147,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 619,
"cdna_start": null,
"cds_end": null,
"cds_length": 444,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304716.12",
"gene_hgnc_id": 30205,
"gene_symbol": "AAMDC",
"hgvs_c": "c.328+1914G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307254.8",
"strand": true,
"transcript": "ENST00000304716.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 88,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 690,
"cdna_start": null,
"cds_end": null,
"cds_length": 267,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532481.5",
"gene_hgnc_id": 30205,
"gene_symbol": "AAMDC",
"hgvs_c": "c.228+9146G>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433293.1",
"strand": true,
"transcript": "ENST00000532481.5",
"transcript_support_level": 1
},
{
"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": 3459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000433818.6",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "n.*2789C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407787.2",
"strand": false,
"transcript": "ENST00000433818.6",
"transcript_support_level": 1
},
{
"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": 3459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000433818.6",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "n.*2789C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407787.2",
"strand": false,
"transcript": "ENST00000433818.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "P",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4258,
"cdna_start": 3055,
"cds_end": null,
"cds_length": 3042,
"cds_start": 3028,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000695102.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.3028C>A",
"hgvs_p": "p.Pro1010Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511693.1",
"strand": false,
"transcript": "ENST00000695102.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 970,
"aa_ref": "P",
"aa_start": 967,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 2926,
"cds_end": null,
"cds_length": 2913,
"cds_start": 2899,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889293.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2899C>A",
"hgvs_p": "p.Pro967Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559352.1",
"strand": false,
"transcript": "ENST00000889293.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 963,
"aa_ref": "P",
"aa_start": 960,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 2903,
"cds_end": null,
"cds_length": 2892,
"cds_start": 2878,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000696971.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2878C>A",
"hgvs_p": "p.Pro960Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513007.1",
"strand": false,
"transcript": "ENST00000696971.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 961,
"aa_ref": "P",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": 2892,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2872,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889292.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2872C>A",
"hgvs_p": "p.Pro958Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559351.1",
"strand": false,
"transcript": "ENST00000889292.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 961,
"aa_ref": "P",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 3079,
"cds_end": null,
"cds_length": 2886,
"cds_start": 2872,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000925639.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2872C>A",
"hgvs_p": "p.Pro958Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595698.1",
"strand": false,
"transcript": "ENST00000925639.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 960,
"aa_ref": "P",
"aa_start": 957,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 2875,
"cds_end": null,
"cds_length": 2883,
"cds_start": 2869,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000942459.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2869C>A",
"hgvs_p": "p.Pro957Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612518.1",
"strand": false,
"transcript": "ENST00000942459.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 953,
"aa_ref": "P",
"aa_start": 950,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 2872,
"cds_end": null,
"cds_length": 2862,
"cds_start": 2848,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000695310.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2848C>A",
"hgvs_p": "p.Pro950Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511799.1",
"strand": false,
"transcript": "ENST00000695310.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 951,
"aa_ref": "P",
"aa_start": 948,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3095,
"cdna_start": 2852,
"cds_end": null,
"cds_length": 2856,
"cds_start": 2842,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000925645.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2842C>A",
"hgvs_p": "p.Pro948Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595704.1",
"strand": false,
"transcript": "ENST00000925645.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 943,
"aa_ref": "P",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3387,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2818,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000695316.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2818C>A",
"hgvs_p": "p.Pro940Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511801.1",
"strand": false,
"transcript": "ENST00000695316.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 936,
"aa_ref": "P",
"aa_start": 933,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 2841,
"cds_end": null,
"cds_length": 2811,
"cds_start": 2797,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000695103.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2797C>A",
"hgvs_p": "p.Pro933Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511694.1",
"strand": false,
"transcript": "ENST00000695103.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 935,
"aa_ref": "P",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2814,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2794,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000925641.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2794C>A",
"hgvs_p": "p.Pro932Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595700.1",
"strand": false,
"transcript": "ENST00000925641.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 919,
"aa_ref": "P",
"aa_start": 916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2760,
"cds_start": 2746,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000925643.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2746C>A",
"hgvs_p": "p.Pro916Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595702.1",
"strand": false,
"transcript": "ENST00000925643.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 904,
"aa_ref": "P",
"aa_start": 901,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2715,
"cds_start": 2701,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000925644.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2701C>A",
"hgvs_p": "p.Pro901Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595703.1",
"strand": false,
"transcript": "ENST00000925644.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 867,
"aa_ref": "P",
"aa_start": 864,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2798,
"cdna_start": 2598,
"cds_end": null,
"cds_length": 2604,
"cds_start": 2590,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000942460.1",
"gene_hgnc_id": 25048,
"gene_symbol": "INTS4",
"hgvs_c": "c.2590C>A",
"hgvs_p": "p.Pro864Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612519.1",
"strand": false,
"transcript": "ENST00000942460.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 853,
"aa_ref": "P",
"aa_start": 850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4147,
"cdna_start": 2944,
"cds_end": null,
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