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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: 1-197477774-AAGGGCAACTC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=197477774&ref=AAGGGCAACTC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 197477774,
"ref": "AAGGGCAACTC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000367400.8",
"consequences": [
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.4121_4130delCAACTCAGGG",
"hgvs_p": "p.Ala1374fs",
"transcript": "NM_201253.3",
"protein_id": "NP_957705.1",
"transcript_support_level": null,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4282,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": "ENST00000367400.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.4121_4130delCAACTCAGGG",
"hgvs_p": "p.Ala1374fs",
"transcript": "ENST00000367400.8",
"protein_id": "ENSP00000356370.3",
"transcript_support_level": 1,
"aa_start": 1374,
"aa_end": null,
"aa_length": 1406,
"cds_start": 4121,
"cds_end": null,
"cds_length": 4221,
"cdna_start": 4282,
"cdna_end": null,
"cdna_length": 4958,
"mane_select": "NM_201253.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.3785_3794delCAACTCAGGG",
"hgvs_p": "p.Ala1262fs",
"transcript": "ENST00000367399.6",
"protein_id": "ENSP00000356369.2",
"transcript_support_level": 1,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3785,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3785,
"cdna_end": null,
"cdna_length": 3885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.*232_*241delCAACTCAGGG",
"hgvs_p": null,
"transcript": "ENST00000484075.5",
"protein_id": "ENSP00000433932.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.*226_*235delCAACTCAGGG",
"hgvs_p": null,
"transcript": "ENST00000448952.1",
"protein_id": "ENSP00000395407.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.*232_*241delCAACTCAGGG",
"hgvs_p": null,
"transcript": "ENST00000484075.5",
"protein_id": "ENSP00000433932.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.4049_4058delCAACTCAGGG",
"hgvs_p": "p.Ala1350fs",
"transcript": "NM_001257965.2",
"protein_id": "NP_001244894.1",
"transcript_support_level": null,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1382,
"cds_start": 4049,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4346,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.4049_4058delCAACTCAGGG",
"hgvs_p": "p.Ala1350fs",
"transcript": "ENST00000535699.5",
"protein_id": "ENSP00000438786.1",
"transcript_support_level": 5,
"aa_start": 1350,
"aa_end": null,
"aa_length": 1382,
"cds_start": 4049,
"cds_end": null,
"cds_length": 4149,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.3785_3794delCAACTCAGGG",
"hgvs_p": "p.Ala1262fs",
"transcript": "NM_001193640.2",
"protein_id": "NP_001180569.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3785,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3946,
"cdna_end": null,
"cdna_length": 4622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2513_2522delCAACTCAGGG",
"hgvs_p": "p.Ala838fs",
"transcript": "NM_001257966.2",
"protein_id": "NP_001244895.1",
"transcript_support_level": null,
"aa_start": 838,
"aa_end": null,
"aa_length": 870,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2674,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2513_2522delCAACTCAGGG",
"hgvs_p": "p.Ala838fs",
"transcript": "ENST00000538660.5",
"protein_id": "ENSP00000438091.1",
"transcript_support_level": 2,
"aa_start": 838,
"aa_end": null,
"aa_length": 870,
"cds_start": 2513,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 3397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.4256_4265delCAACTCAGGG",
"hgvs_p": "p.Ala1419fs",
"transcript": "XM_017000852.2",
"protein_id": "XP_016856341.1",
"transcript_support_level": null,
"aa_start": 1419,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4256,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4417,
"cdna_end": null,
"cdna_length": 5093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.3914_3923delCAACTCAGGG",
"hgvs_p": "p.Ala1305fs",
"transcript": "XM_047416572.1",
"protein_id": "XP_047272528.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 4320,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.3914_3923delCAACTCAGGG",
"hgvs_p": "p.Ala1305fs",
"transcript": "XM_047416573.1",
"protein_id": "XP_047272529.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1337,
"cds_start": 3914,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 4136,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.3260_3269delCAACTCAGGG",
"hgvs_p": "p.Ala1087fs",
"transcript": "XM_047416575.1",
"protein_id": "XP_047272531.1",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3260,
"cds_end": null,
"cds_length": 3360,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 3946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ATQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.2564_2573delCAACTCAGGG",
"hgvs_p": "p.Ala855fs",
"transcript": "XM_011509369.3",
"protein_id": "XP_011507671.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 887,
"cds_start": 2564,
"cds_end": null,
"cds_length": 2664,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 3717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.4074_4083delCAACTCAGGG",
"hgvs_p": null,
"transcript": "NR_047563.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "n.4524_4533delCAACTCAGGG",
"hgvs_p": null,
"transcript": "NR_047564.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.*100_*109delCAACTCAGGG",
"hgvs_p": null,
"transcript": "XM_011509367.2",
"protein_id": "XP_011507669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1297,
"cds_start": -4,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"hgvs_c": "c.*100_*109delCAACTCAGGG",
"hgvs_p": null,
"transcript": "XM_047416574.1",
"protein_id": "XP_047272530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": -4,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CRB1",
"gene_hgnc_id": 2343,
"dbsnp": "rs281865175",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.872,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 14,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367400.8",
"gene_symbol": "CRB1",
"hgnc_id": 2343,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.4121_4130delCAACTCAGGG",
"hgvs_p": "p.Ala1374fs"
}
],
"clinvar_disease": "Leber congenital amaurosis,Leber congenital amaurosis 8,Retinitis pigmentosa 12,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 O:1",
"phenotype_combined": "Retinitis pigmentosa 12|Leber congenital amaurosis 8|not provided|Retinitis pigmentosa 12;Leber congenital amaurosis 8|Leber congenital amaurosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}