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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: 11-72005249-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=72005249&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 72005249,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006185.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "NM_006185.4",
"protein_id": "NP_006176.2",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6000,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "ENST00000393695.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006185.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000393695.8",
"protein_id": "ENSP00000377298.4",
"transcript_support_level": 1,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6000,
"cdna_end": null,
"cdna_length": 7198,
"mane_select": "NM_006185.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393695.8"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2405A>G",
"hgvs_p": "p.Tyr802Cys",
"transcript": "ENST00000351960.10",
"protein_id": "ENSP00000260051.8",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 979,
"cds_start": 2405,
"cds_end": null,
"cds_length": 2940,
"cdna_start": 2577,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351960.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.2357A>G",
"hgvs_p": "p.Tyr786Cys",
"transcript": "ENST00000541584.5",
"protein_id": "ENSP00000440954.1",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 963,
"cds_start": 2357,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 2359,
"cdna_end": null,
"cdna_length": 3557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541584.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IL18BP",
"gene_hgnc_id": 5987,
"hgvs_c": "n.*909-296T>C",
"hgvs_p": null,
"transcript": "ENST00000343898.9",
"protein_id": "ENSP00000343309.5",
"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": 1720,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000343898.9"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5867A>G",
"hgvs_p": "p.Tyr1956Cys",
"transcript": "ENST00000967521.1",
"protein_id": "ENSP00000637580.1",
"transcript_support_level": null,
"aa_start": 1956,
"aa_end": null,
"aa_length": 2133,
"cds_start": 5867,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 6205,
"cdna_end": null,
"cdna_length": 7403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967521.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5828A>G",
"hgvs_p": "p.Tyr1943Cys",
"transcript": "ENST00000967525.1",
"protein_id": "ENSP00000637584.1",
"transcript_support_level": null,
"aa_start": 1943,
"aa_end": null,
"aa_length": 2120,
"cds_start": 5828,
"cds_end": null,
"cds_length": 6363,
"cdna_start": 5994,
"cdna_end": null,
"cdna_length": 7186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967525.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000863446.1",
"protein_id": "ENSP00000533505.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 5946,
"cdna_end": null,
"cdna_length": 7142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863446.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000863448.1",
"protein_id": "ENSP00000533507.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6004,
"cdna_end": null,
"cdna_length": 7199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863448.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000863451.1",
"protein_id": "ENSP00000533510.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6286,
"cdna_end": null,
"cdna_length": 7481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863451.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000967523.1",
"protein_id": "ENSP00000637582.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6199,
"cdna_end": null,
"cdna_length": 7396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967523.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000967524.1",
"protein_id": "ENSP00000637583.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6254,
"cdna_end": null,
"cdna_length": 7450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967524.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000967527.1",
"protein_id": "ENSP00000637586.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 6085,
"cdna_end": null,
"cdna_length": 7280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967527.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys",
"transcript": "ENST00000967529.1",
"protein_id": "ENSP00000637588.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 2115,
"cds_start": 5813,
"cds_end": null,
"cds_length": 6348,
"cdna_start": 5984,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967529.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5792A>G",
"hgvs_p": "p.Tyr1931Cys",
"transcript": "ENST00000863447.1",
"protein_id": "ENSP00000533506.1",
"transcript_support_level": null,
"aa_start": 1931,
"aa_end": null,
"aa_length": 2108,
"cds_start": 5792,
"cds_end": null,
"cds_length": 6327,
"cdna_start": 5938,
"cdna_end": null,
"cdna_length": 7136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863447.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5786A>G",
"hgvs_p": "p.Tyr1929Cys",
"transcript": "ENST00000921276.1",
"protein_id": "ENSP00000591335.1",
"transcript_support_level": null,
"aa_start": 1929,
"aa_end": null,
"aa_length": 2106,
"cds_start": 5786,
"cds_end": null,
"cds_length": 6321,
"cdna_start": 5964,
"cdna_end": null,
"cdna_length": 7162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921276.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Tyr1924Cys",
"transcript": "NM_001286561.2",
"protein_id": "NP_001273490.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6056,
"cdna_end": null,
"cdna_length": 7254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286561.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Tyr1924Cys",
"transcript": "ENST00000358965.10",
"protein_id": "ENSP00000351851.6",
"transcript_support_level": 2,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6029,
"cdna_end": null,
"cdna_length": 7227,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358965.10"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Tyr1924Cys",
"transcript": "ENST00000620566.4",
"protein_id": "ENSP00000478624.1",
"transcript_support_level": 5,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 5815,
"cdna_end": null,
"cdna_length": 7012,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620566.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Tyr1924Cys",
"transcript": "ENST00000863445.1",
"protein_id": "ENSP00000533504.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6109,
"cdna_end": null,
"cdna_length": 7311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863445.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Tyr1924Cys",
"transcript": "ENST00000863449.1",
"protein_id": "ENSP00000533508.1",
"transcript_support_level": null,
"aa_start": 1924,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5771,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 6145,
"cdna_end": null,
"cdna_length": 7341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863449.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"hgvs_c": "c.5771A>G",
"hgvs_p": "p.Tyr1924Cys",
"transcript": "ENST00000863450.1",
"protein_id": "ENSP00000533509.1",
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"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2796,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000545721.1"
}
],
"gene_symbol": "NUMA1",
"gene_hgnc_id": 8059,
"dbsnp": "rs1175531312",
"frequency_reference_population": 0.000006572375,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657237,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5584325790405273,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.447,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9296,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.88,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006185.4",
"gene_symbol": "NUMA1",
"hgnc_id": 8059,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5813A>G",
"hgvs_p": "p.Tyr1938Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000343898.9",
"gene_symbol": "IL18BP",
"hgnc_id": 5987,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "n.*909-296T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}