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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: 4-151133068-AA-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=151133068&ref=AA&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SH3D19",
"hgnc_id": 30418,
"hgvs_c": "c.2723_2724delTTinsCG",
"hgvs_p": "p.Val908Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001378121.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "SH3D19-AS1",
"hgnc_id": 58337,
"hgvs_c": "n.41-6488_41-6487delAAinsCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "XR_001741442.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "4",
"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": "A",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "V",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 3144,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378122.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2654_2655delTTinsCG",
"hgvs_p": "p.Val885Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000604030.7",
"protein_coding": true,
"protein_id": "NP_001365051.1",
"strand": false,
"transcript": "NM_001378122.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1047,
"aa_ref": "V",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 2908,
"cds_end": null,
"cds_length": 3144,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000604030.7",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2654_2655delTTinsCG",
"hgvs_p": "p.Val885Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378122.1",
"protein_coding": true,
"protein_id": "ENSP00000488951.1",
"strand": false,
"transcript": "ENST00000604030.7",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 767,
"aa_ref": "V",
"aa_start": 605,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1814,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409598.8",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.1814_1815delTTinsCG",
"hgvs_p": "p.Val605Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387030.4",
"strand": false,
"transcript": "ENST00000409598.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 731,
"aa_ref": "V",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2656,
"cdna_start": 1896,
"cds_end": null,
"cds_length": 2196,
"cds_start": 1706,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427414.2",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.1706_1707delTTinsCG",
"hgvs_p": "p.Val569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415694.1",
"strand": false,
"transcript": "ENST00000427414.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1082,
"aa_ref": "V",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5436,
"cdna_start": 3032,
"cds_end": null,
"cds_length": 3249,
"cds_start": 2654,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916625.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2654_2655delTTinsCG",
"hgvs_p": "p.Val885Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586684.1",
"strand": false,
"transcript": "ENST00000916625.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1070,
"aa_ref": "V",
"aa_start": 908,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5276,
"cdna_start": 2977,
"cds_end": null,
"cds_length": 3213,
"cds_start": 2723,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378121.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2723_2724delTTinsCG",
"hgvs_p": "p.Val908Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365050.1",
"strand": false,
"transcript": "NM_001378121.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "V",
"aa_start": 906,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5186,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 3207,
"cds_start": 2717,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875010.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2717_2718delTTinsCG",
"hgvs_p": "p.Val906Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545069.1",
"strand": false,
"transcript": "ENST00000875010.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1053,
"aa_ref": "V",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5187,
"cdna_start": 2890,
"cds_end": null,
"cds_length": 3162,
"cds_start": 2672,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967013.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2672_2673delTTinsCG",
"hgvs_p": "p.Val891Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637072.1",
"strand": false,
"transcript": "ENST00000967013.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1046,
"aa_ref": "V",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 2822,
"cds_end": null,
"cds_length": 3141,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967015.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2546_2547delTTinsCG",
"hgvs_p": "p.Val849Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637074.1",
"strand": false,
"transcript": "ENST00000967015.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "V",
"aa_start": 883,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5159,
"cdna_start": 2866,
"cds_end": null,
"cds_length": 3138,
"cds_start": 2648,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967014.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2648_2649delTTinsCG",
"hgvs_p": "p.Val883Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637073.1",
"strand": false,
"transcript": "ENST00000967014.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1037,
"aa_ref": "V",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5086,
"cdna_start": 2793,
"cds_end": null,
"cds_length": 3114,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875012.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2624_2625delTTinsCG",
"hgvs_p": "p.Val875Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545071.1",
"strand": false,
"transcript": "ENST00000875012.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1034,
"aa_ref": "V",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5213,
"cdna_start": 2913,
"cds_end": null,
"cds_length": 3105,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875008.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2615_2616delTTinsCG",
"hgvs_p": "p.Val872Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545067.1",
"strand": false,
"transcript": "ENST00000875008.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "V",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5175,
"cdna_start": 2876,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378123.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2546_2547delTTinsCG",
"hgvs_p": "p.Val849Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365052.1",
"strand": false,
"transcript": "NM_001378123.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "V",
"aa_start": 849,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5162,
"cdna_start": 2892,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2546,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652233.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2546_2547delTTinsCG",
"hgvs_p": "p.Val849Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499127.1",
"strand": false,
"transcript": "ENST00000652233.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "V",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5009,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2513,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875009.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2513_2514delTTinsCG",
"hgvs_p": "p.Val838Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545068.1",
"strand": false,
"transcript": "ENST00000875009.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 989,
"aa_ref": "V",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4992,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 2970,
"cds_start": 2480,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000916626.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2480_2481delTTinsCG",
"hgvs_p": "p.Val827Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586685.1",
"strand": false,
"transcript": "ENST00000916626.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 988,
"aa_ref": "V",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5136,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2967,
"cds_start": 2477,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378124.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2477_2478delTTinsCG",
"hgvs_p": "p.Val826Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365053.1",
"strand": false,
"transcript": "NM_001378124.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 979,
"aa_ref": "V",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5049,
"cdna_start": 2757,
"cds_end": null,
"cds_length": 2940,
"cds_start": 2450,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000967012.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.2450_2451delTTinsCG",
"hgvs_p": "p.Val817Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637071.1",
"strand": false,
"transcript": "ENST00000967012.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 790,
"aa_ref": "V",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5185,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001009555.4",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.1883_1884delTTinsCG",
"hgvs_p": "p.Val628Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001009555.3",
"strand": false,
"transcript": "NM_001009555.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 790,
"aa_ref": "V",
"aa_start": 628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5061,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1883,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378126.1",
"gene_hgnc_id": 30418,
"gene_symbol": "SH3D19",
"hgvs_c": "c.1883_1884delTTinsCG",
"hgvs_p": "p.Val628Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365055.1",
"strand": false,
"transcript": "NM_001378126.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
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