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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: 17-17813378-ACC-TGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17813378&ref=ACC&alt=TGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SREBF1",
"hgnc_id": 11289,
"hgvs_c": "c.3292_3294delGGTinsTCA",
"hgvs_p": "p.Gly1098Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001005291.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR6777",
"hgnc_id": 50173,
"hgvs_c": "n.*100_*102delGGTinsTCA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NR_106835.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "S",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "G",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3444,
"cds_start": 3202,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004176.5",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3202_3204delGGTinsTCA",
"hgvs_p": "p.Gly1068Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261646.11",
"protein_coding": true,
"protein_id": "NP_004167.3",
"strand": false,
"transcript": "NM_004176.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1147,
"aa_ref": "G",
"aa_start": 1068,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4901,
"cdna_start": 3373,
"cds_end": null,
"cds_length": 3444,
"cds_start": 3202,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261646.11",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3202_3204delGGTinsTCA",
"hgvs_p": "p.Gly1068Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004176.5",
"protein_coding": true,
"protein_id": "ENSP00000261646.5",
"strand": false,
"transcript": "ENST00000261646.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "G",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 3464,
"cds_end": null,
"cds_length": 3534,
"cds_start": 3292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355815.8",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3292_3294delGGTinsTCA",
"hgvs_p": "p.Gly1098Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348069.4",
"strand": false,
"transcript": "ENST00000355815.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "G",
"aa_start": 1098,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": 3463,
"cds_end": null,
"cds_length": 3534,
"cds_start": 3292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005291.3",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3292_3294delGGTinsTCA",
"hgvs_p": "p.Gly1098Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005291.1",
"strand": false,
"transcript": "NM_001005291.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "G",
"aa_start": 1097,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 3460,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3289,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388385.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3289_3291delGGTinsTCA",
"hgvs_p": "p.Gly1097Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375314.1",
"strand": false,
"transcript": "NM_001388385.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "G",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5027,
"cdna_start": 3501,
"cds_end": null,
"cds_length": 3528,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892469.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3286_3288delGGTinsTCA",
"hgvs_p": "p.Gly1096Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562529.1",
"strand": false,
"transcript": "ENST00000892469.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1160,
"aa_ref": "G",
"aa_start": 1081,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4940,
"cdna_start": 3412,
"cds_end": null,
"cds_length": 3483,
"cds_start": 3241,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388387.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3241_3243delGGTinsTCA",
"hgvs_p": "p.Gly1081Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375316.1",
"strand": false,
"transcript": "NM_001388387.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "G",
"aa_start": 1067,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4864,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 3441,
"cds_start": 3199,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892473.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3199_3201delGGTinsTCA",
"hgvs_p": "p.Gly1067Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562532.1",
"strand": false,
"transcript": "ENST00000892473.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "G",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4895,
"cdna_start": 3367,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388389.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3196_3198delGGTinsTCA",
"hgvs_p": "p.Gly1066Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375318.1",
"strand": false,
"transcript": "NM_001388389.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "G",
"aa_start": 1066,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 3411,
"cds_end": null,
"cds_length": 3438,
"cds_start": 3196,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892472.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3196_3198delGGTinsTCA",
"hgvs_p": "p.Gly1066Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562530.1",
"strand": false,
"transcript": "ENST00000892472.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "G",
"aa_start": 1062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3184,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388390.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3184_3186delGGTinsTCA",
"hgvs_p": "p.Gly1062Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375319.1",
"strand": false,
"transcript": "NM_001388390.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "G",
"aa_start": 1062,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3426,
"cds_start": 3184,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892477.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3184_3186delGGTinsTCA",
"hgvs_p": "p.Gly1062Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562536.1",
"strand": false,
"transcript": "ENST00000892477.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1138,
"aa_ref": "G",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 3346,
"cds_end": null,
"cds_length": 3417,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388391.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3175_3177delGGTinsTCA",
"hgvs_p": "p.Gly1059Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375320.1",
"strand": false,
"transcript": "NM_001388391.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1138,
"aa_ref": "G",
"aa_start": 1059,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 3345,
"cds_end": null,
"cds_length": 3417,
"cds_start": 3175,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918821.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3175_3177delGGTinsTCA",
"hgvs_p": "p.Gly1059Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588880.1",
"strand": false,
"transcript": "ENST00000918821.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1126,
"aa_ref": "G",
"aa_start": 1047,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 3310,
"cds_end": null,
"cds_length": 3381,
"cds_start": 3139,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000892480.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3139_3141delGGTinsTCA",
"hgvs_p": "p.Gly1047Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562539.1",
"strand": false,
"transcript": "ENST00000892480.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "G",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4754,
"cdna_start": 3226,
"cds_end": null,
"cds_length": 3372,
"cds_start": 3130,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001321096.3",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3130_3132delGGTinsTCA",
"hgvs_p": "p.Gly1044Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308025.1",
"strand": false,
"transcript": "NM_001321096.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1099,
"aa_ref": "G",
"aa_start": 1020,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4034,
"cdna_start": 3249,
"cds_end": null,
"cds_length": 3300,
"cds_start": 3058,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918822.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.3058_3060delGGTinsTCA",
"hgvs_p": "p.Gly1020Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588881.1",
"strand": false,
"transcript": "ENST00000918822.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1073,
"aa_ref": "G",
"aa_start": 994,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4679,
"cdna_start": 3151,
"cds_end": null,
"cds_length": 3222,
"cds_start": 2980,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388392.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.2980_2982delGGTinsTCA",
"hgvs_p": "p.Gly994Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375321.1",
"strand": false,
"transcript": "NM_001388392.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "G",
"aa_start": 941,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 2992,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2821,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388393.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.2821_2823delGGTinsTCA",
"hgvs_p": "p.Gly941Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375322.1",
"strand": false,
"transcript": "NM_001388393.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1003,
"aa_ref": "G",
"aa_start": 924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4469,
"cdna_start": 2941,
"cds_end": null,
"cds_length": 3012,
"cds_start": 2770,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388394.1",
"gene_hgnc_id": 11289,
"gene_symbol": "SREBF1",
"hgvs_c": "c.2770_2772delGGTinsTCA",
"hgvs_p": "p.Gly924Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375323.1",
"strand": false,
"transcript": "NM_001388394.1",
"transcript_support_level": null
},
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}
]
}