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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: 19-16088078-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=16088078&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 16088078,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001145160.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "NM_003290.3",
"protein_id": "NP_003281.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 248,
"cds_start": 436,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000643579.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003290.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000643579.2",
"protein_id": "ENSP00000495347.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 248,
"cds_start": 436,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003290.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643579.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "n.*162C>T",
"hgvs_p": null,
"transcript": "ENST00000300933.9",
"protein_id": "ENSP00000300933.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000300933.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "n.*162C>T",
"hgvs_p": null,
"transcript": "ENST00000300933.9",
"protein_id": "ENSP00000300933.4",
"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": "nonsense_mediated_decay",
"feature": "ENST00000300933.9"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000962764.1",
"protein_id": "ENSP00000632823.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 305,
"cds_start": 436,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962764.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Cys",
"transcript": "NM_001145160.2",
"protein_id": "NP_001138632.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 284,
"cds_start": 544,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145160.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Cys",
"transcript": "ENST00000646974.2",
"protein_id": "ENSP00000494125.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 284,
"cds_start": 544,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646974.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Cys",
"transcript": "ENST00000647464.3",
"protein_id": "ENSP00000496648.3",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 284,
"cds_start": 544,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647464.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.496C>T",
"hgvs_p": "p.Arg166Cys",
"transcript": "NM_001367836.1",
"protein_id": "NP_001354765.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 268,
"cds_start": 496,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367836.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000962762.1",
"protein_id": "ENSP00000632821.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 257,
"cds_start": 436,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962762.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "NM_001367837.2",
"protein_id": "NP_001354766.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 248,
"cds_start": 436,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367837.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000646575.2",
"protein_id": "ENSP00000496574.2",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 248,
"cds_start": 436,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646575.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "NM_001367838.1",
"protein_id": "NP_001354767.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 245,
"cds_start": 427,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367838.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Arg143Cys",
"transcript": "ENST00000586833.7",
"protein_id": "ENSP00000467087.3",
"transcript_support_level": 5,
"aa_start": 143,
"aa_end": null,
"aa_length": 245,
"cds_start": 427,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586833.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000962761.1",
"protein_id": "ENSP00000632820.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 227,
"cds_start": 436,
"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": "ENST00000962761.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.370C>T",
"hgvs_p": "p.Arg124Cys",
"transcript": "ENST00000642221.1",
"protein_id": "ENSP00000495135.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 226,
"cds_start": 370,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642221.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.436C>T",
"hgvs_p": "p.Arg146Cys",
"transcript": "ENST00000962763.1",
"protein_id": "ENSP00000632822.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 203,
"cds_start": 436,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962763.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.184C>T",
"hgvs_p": "p.Arg62Cys",
"transcript": "ENST00000923415.1",
"protein_id": "ENSP00000593474.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 164,
"cds_start": 184,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923415.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.166C>T",
"hgvs_p": "p.Arg56Cys",
"transcript": "ENST00000344824.11",
"protein_id": "ENSP00000345230.6",
"transcript_support_level": 5,
"aa_start": 56,
"aa_end": null,
"aa_length": 158,
"cds_start": 166,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344824.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "c.384+1538C>T",
"hgvs_p": null,
"transcript": "ENST00000891514.1",
"protein_id": "ENSP00000561573.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 199,
"cds_start": null,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891514.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "n.503C>T",
"hgvs_p": null,
"transcript": "ENST00000586193.6",
"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": "ENST00000586193.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"hgvs_c": "n.*468C>T",
"hgvs_p": null,
"transcript": "ENST00000586499.6",
"protein_id": "ENSP00000468246.2",
"transcript_support_level": 4,
"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": "ENST00000586499.6"
},
{
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"gene_hgnc_id": 12013,
"hgvs_c": "n.-72C>T",
"hgvs_p": null,
"transcript": "ENST00000653961.1",
"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": "pseudogene",
"feature": "ENST00000653961.1"
}
],
"gene_symbol": "TPM4",
"gene_hgnc_id": 12013,
"dbsnp": "rs752488156",
"frequency_reference_population": 0.000007444501,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000753431,
"gnomad_genomes_af": 0.00000658155,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9446742534637451,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.904,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9841,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.5,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.131,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": "PP2,PP3_Strong,PP5,BS2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 4,
"pathogenic_score": 6,
"criteria": [
"PP2",
"PP3_Strong",
"PP5",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001145160.2",
"gene_symbol": "TPM4",
"hgnc_id": 12013,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Arg182Cys"
}
],
"clinvar_disease": " 25, platelet-type,Bleeding disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Bleeding disorder, platelet-type, 25",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}