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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: 11-67608571-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67608571&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67608571,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_007103.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "NM_007103.4",
"protein_id": "NP_009034.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 464,
"cds_start": 175,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322776.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007103.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000322776.11",
"protein_id": "ENSP00000322450.6",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 464,
"cds_start": 175,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322776.11"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000529927.5",
"protein_id": "ENSP00000436766.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 455,
"cds_start": 148,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529927.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "ENST00000524838.5",
"protein_id": null,
"transcript_support_level": 1,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000524838.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "ENST00000532303.5",
"protein_id": "ENSP00000432015.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532303.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "ENST00000532244.5",
"protein_id": "ENSP00000435202.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": null,
"cds_end": null,
"cds_length": 409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532244.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "ENST00000532343.5",
"protein_id": "ENSP00000431751.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532343.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "ENST00000528314.1",
"protein_id": "ENSP00000434581.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528314.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000926240.1",
"protein_id": "ENSP00000596299.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 469,
"cds_start": 175,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926240.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000647561.1",
"protein_id": "ENSP00000497587.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 464,
"cds_start": 175,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647561.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000926237.1",
"protein_id": "ENSP00000596296.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 463,
"cds_start": 175,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926237.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000926238.1",
"protein_id": "ENSP00000596297.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 462,
"cds_start": 175,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926238.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52*",
"transcript": "ENST00000415352.6",
"protein_id": "ENSP00000395368.2",
"transcript_support_level": 2,
"aa_start": 52,
"aa_end": null,
"aa_length": 457,
"cds_start": 154,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415352.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001166102.2",
"protein_id": "NP_001159574.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 455,
"cds_start": 148,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166102.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000879259.1",
"protein_id": "ENSP00000549318.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 450,
"cds_start": 175,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879259.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000964389.1",
"protein_id": "ENSP00000634448.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 439,
"cds_start": 175,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964389.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000879258.1",
"protein_id": "ENSP00000549317.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 437,
"cds_start": 175,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879258.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52*",
"transcript": "ENST00000926243.1",
"protein_id": "ENSP00000596302.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 432,
"cds_start": 154,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926243.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000964390.1",
"protein_id": "ENSP00000634449.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 422,
"cds_start": 175,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964390.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000879260.1",
"protein_id": "ENSP00000549319.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 410,
"cds_start": 175,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879260.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000926241.1",
"protein_id": "ENSP00000596300.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 408,
"cds_start": 175,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926241.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFV1",
"gene_hgnc_id": 7716,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*",
"transcript": "ENST00000926242.1",
"protein_id": "ENSP00000596301.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 408,
"cds_start": 175,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926242.1"
},
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"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5099999904632568,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.51,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.364,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_007103.4",
"gene_symbol": "NDUFV1",
"hgnc_id": 7716,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59*"
}
],
"clinvar_disease": " nuclear type 4,Leigh syndrome,Mitochondrial complex I deficiency,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Mitochondrial complex I deficiency, nuclear type 4|not provided|Leigh syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}