← Back to variant description
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: 3-49722038-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49722038&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49722038,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013334.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "NM_021971.4",
"protein_id": "NP_068806.2",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 360,
"cds_start": 878,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308388.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021971.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000308388.7",
"protein_id": "ENSP00000311130.6",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 360,
"cds_start": 878,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021971.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308388.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.986G>A",
"hgvs_p": "p.Arg329Gln",
"transcript": "ENST00000495627.2",
"protein_id": "ENSP00000503768.1",
"transcript_support_level": 2,
"aa_start": 329,
"aa_end": null,
"aa_length": 396,
"cds_start": 986,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495627.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "NM_013334.4",
"protein_id": "NP_037466.3",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 387,
"cds_start": 878,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013334.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000308375.10",
"protein_id": "ENSP00000309092.6",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 387,
"cds_start": 878,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308375.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000859690.1",
"protein_id": "ENSP00000529749.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 366,
"cds_start": 878,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859690.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000480687.5",
"protein_id": "ENSP00000418565.1",
"transcript_support_level": 2,
"aa_start": 293,
"aa_end": null,
"aa_length": 360,
"cds_start": 878,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480687.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292Gln",
"transcript": "ENST00000955679.1",
"protein_id": "ENSP00000625738.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 359,
"cds_start": 875,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955679.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.872G>A",
"hgvs_p": "p.Arg291Gln",
"transcript": "ENST00000859688.1",
"protein_id": "ENSP00000529747.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 358,
"cds_start": 872,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859688.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln",
"transcript": "ENST00000931337.1",
"protein_id": "ENSP00000601396.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 356,
"cds_start": 878,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931337.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "ENST00000955682.1",
"protein_id": "ENSP00000625741.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 333,
"cds_start": 797,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955682.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229Gln",
"transcript": "ENST00000955681.1",
"protein_id": "ENSP00000625740.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 296,
"cds_start": 686,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955681.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000931336.1",
"protein_id": "ENSP00000601395.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 291,
"cds_start": 671,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931336.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000677393.1",
"protein_id": "ENSP00000503880.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 255,
"cds_start": 671,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677393.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.512G>A",
"hgvs_p": "p.Arg171Gln",
"transcript": "ENST00000678010.1",
"protein_id": "ENSP00000503176.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 238,
"cds_start": 512,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678010.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.497G>A",
"hgvs_p": "p.Arg166Gln",
"transcript": "ENST00000931338.1",
"protein_id": "ENSP00000601397.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 233,
"cds_start": 497,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931338.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.479G>A",
"hgvs_p": "p.Arg160Gln",
"transcript": "ENST00000859689.1",
"protein_id": "ENSP00000529748.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 227,
"cds_start": 479,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859689.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107Gln",
"transcript": "ENST00000955680.1",
"protein_id": "ENSP00000625739.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 174,
"cds_start": 320,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955680.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "n.1451G>A",
"hgvs_p": null,
"transcript": "ENST00000481959.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000481959.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "n.1312G>A",
"hgvs_p": null,
"transcript": "ENST00000678208.1",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000678208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "n.*169G>A",
"hgvs_p": null,
"transcript": "ENST00000678853.1",
"protein_id": "ENSP00000504692.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678853.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"hgvs_c": "n.*169G>A",
"hgvs_p": null,
"transcript": "ENST00000678853.1",
"protein_id": "ENSP00000504692.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000678853.1"
}
],
"gene_symbol": "GMPPB",
"gene_hgnc_id": 22932,
"dbsnp": "rs748809549",
"frequency_reference_population": 0.0000086769505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000684335,
"gnomad_genomes_af": 0.0000262816,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25667238235473633,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.335,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.295,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013334.4",
"gene_symbol": "GMPPB",
"hgnc_id": 22932,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.878G>A",
"hgvs_p": "p.Arg293Gln"
}
],
"clinvar_disease": " type A14, type B14,Autosomal recessive limb-girdle muscular dystrophy type 2T,Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies),Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14;Autosomal recessive limb-girdle muscular dystrophy type 2T;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}