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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: 5-233523-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=233523&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 233523,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004168.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "NM_004168.4",
"protein_id": "NP_004159.2",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 664,
"cds_start": 942,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": "ENST00000264932.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004168.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000264932.11",
"protein_id": "ENSP00000264932.6",
"transcript_support_level": 1,
"aa_start": 314,
"aa_end": null,
"aa_length": 664,
"cds_start": 942,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": "NM_004168.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264932.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286001",
"gene_hgnc_id": null,
"hgvs_c": "n.942G>T",
"hgvs_p": null,
"transcript": "ENST00000651543.1",
"protein_id": "ENSP00000499215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3665,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000651543.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000874235.1",
"protein_id": "ENSP00000544294.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 726,
"cds_start": 942,
"cds_end": null,
"cds_length": 2181,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874235.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.1095G>T",
"hgvs_p": "p.Glu365Asp",
"transcript": "ENST00000952715.1",
"protein_id": "ENSP00000622774.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 715,
"cds_start": 1095,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1124,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952715.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.996G>T",
"hgvs_p": "p.Glu332Asp",
"transcript": "ENST00000874242.1",
"protein_id": "ENSP00000544301.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 682,
"cds_start": 996,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 2355,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874242.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000952713.1",
"protein_id": "ENSP00000622772.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 681,
"cds_start": 942,
"cds_end": null,
"cds_length": 2046,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952713.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.969G>T",
"hgvs_p": "p.Glu323Asp",
"transcript": "ENST00000952712.1",
"protein_id": "ENSP00000622771.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 673,
"cds_start": 969,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 2306,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952712.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000874248.1",
"protein_id": "ENSP00000544307.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 672,
"cds_start": 942,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874248.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000952708.1",
"protein_id": "ENSP00000622767.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 666,
"cds_start": 942,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 2333,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952708.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000874234.1",
"protein_id": "ENSP00000544293.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 663,
"cds_start": 942,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874234.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.939G>T",
"hgvs_p": "p.Glu313Asp",
"transcript": "ENST00000952707.1",
"protein_id": "ENSP00000622766.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 663,
"cds_start": 939,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952707.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000874246.1",
"protein_id": "ENSP00000544305.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 656,
"cds_start": 942,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874246.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.909G>T",
"hgvs_p": "p.Glu303Asp",
"transcript": "ENST00000874244.1",
"protein_id": "ENSP00000544303.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 653,
"cds_start": 909,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 2259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874244.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.909G>T",
"hgvs_p": "p.Glu303Asp",
"transcript": "ENST00000952709.1",
"protein_id": "ENSP00000622768.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 653,
"cds_start": 909,
"cds_end": null,
"cds_length": 1962,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 2269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952709.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.897G>T",
"hgvs_p": "p.Glu299Asp",
"transcript": "ENST00000952716.1",
"protein_id": "ENSP00000622775.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 649,
"cds_start": 897,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952716.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000874236.1",
"protein_id": "ENSP00000544295.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 626,
"cds_start": 942,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 993,
"cdna_end": null,
"cdna_length": 2194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874236.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.798G>T",
"hgvs_p": "p.Glu266Asp",
"transcript": "NM_001294332.2",
"protein_id": "NP_001281261.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 616,
"cds_start": 798,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001294332.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.798G>T",
"hgvs_p": "p.Glu266Asp",
"transcript": "ENST00000510361.5",
"protein_id": "ENSP00000427703.1",
"transcript_support_level": 2,
"aa_start": 266,
"aa_end": null,
"aa_length": 616,
"cds_start": 798,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 2148,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510361.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.777G>T",
"hgvs_p": "p.Glu259Asp",
"transcript": "ENST00000874233.1",
"protein_id": "ENSP00000544292.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 609,
"cds_start": 777,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874233.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "NM_001330758.2",
"protein_id": "NP_001317687.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 583,
"cds_start": 942,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 2450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330758.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SDHA",
"gene_hgnc_id": 10680,
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp",
"transcript": "ENST00000504309.5",
"protein_id": "ENSP00000426514.1",
"transcript_support_level": 5,
"aa_start": 314,
"aa_end": null,
"aa_length": 583,
"cds_start": 942,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
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"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004168.4",
"gene_symbol": "SDHA",
"hgnc_id": 10680,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.942G>T",
"hgvs_p": "p.Glu314Asp"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000651543.1",
"gene_symbol": "ENSG00000286001",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.942G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}