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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: 16-67828478-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67828478&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67828478,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025082.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "NM_025082.4",
"protein_id": "NP_079358.3",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000562787.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025082.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000562787.6",
"protein_id": "ENSP00000457810.1",
"transcript_support_level": 2,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025082.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562787.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1633C>T",
"hgvs_p": "p.Arg545Trp",
"transcript": "ENST00000937858.1",
"protein_id": "ENSP00000607917.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 586,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937858.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1624C>T",
"hgvs_p": "p.Arg542Trp",
"transcript": "ENST00000937857.1",
"protein_id": "ENSP00000607916.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 583,
"cds_start": 1624,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937857.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000440851.6",
"protein_id": "ENSP00000400140.2",
"transcript_support_level": 5,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440851.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000899953.1",
"protein_id": "ENSP00000570012.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899953.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000969291.1",
"protein_id": "ENSP00000639350.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969291.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000969292.1",
"protein_id": "ENSP00000639351.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969292.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "ENST00000969293.1",
"protein_id": "ENSP00000639352.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969293.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1393C>T",
"hgvs_p": "p.Arg465Trp",
"transcript": "ENST00000564817.5",
"protein_id": "ENSP00000457294.1",
"transcript_support_level": 5,
"aa_start": 465,
"aa_end": null,
"aa_length": 506,
"cds_start": 1393,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564817.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp",
"transcript": "XM_047434686.1",
"protein_id": "XP_047290642.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 561,
"cds_start": 1558,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434686.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"transcript": "XM_024450455.2",
"protein_id": "XP_024306223.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 458,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450455.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.1249C>T",
"hgvs_p": "p.Arg417Trp",
"transcript": "XM_024450456.2",
"protein_id": "XP_024306224.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 458,
"cds_start": 1249,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450456.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Arg273Trp",
"transcript": "XM_017023717.2",
"protein_id": "XP_016879206.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 314,
"cds_start": 817,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023717.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "c.*1248C>T",
"hgvs_p": null,
"transcript": "ENST00000626059.2",
"protein_id": "ENSP00000487410.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 73,
"cds_start": null,
"cds_end": null,
"cds_length": 222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000626059.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.1754C>T",
"hgvs_p": null,
"transcript": "ENST00000436104.6",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000436104.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.1723C>T",
"hgvs_p": null,
"transcript": "ENST00000563885.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000563885.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.1897C>T",
"hgvs_p": null,
"transcript": "ENST00000565157.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000565157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.888C>T",
"hgvs_p": null,
"transcript": "ENST00000568495.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000568495.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.2719C>T",
"hgvs_p": null,
"transcript": "ENST00000569862.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000569862.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.605C>T",
"hgvs_p": null,
"transcript": "ENST00000574569.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000574569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"hgvs_c": "n.*985+31C>T",
"hgvs_p": null,
"transcript": "ENST00000562513.6",
"protein_id": "ENSP00000461212.1",
"transcript_support_level": 5,
"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": "ENST00000562513.6"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TSNAXIP1",
"gene_hgnc_id": 18586,
"hgvs_c": "n.219+536G>A",
"hgvs_p": null,
"transcript": "ENST00000565558.1",
"protein_id": "ENSP00000464527.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000565558.1"
}
],
"gene_symbol": "CENPT",
"gene_hgnc_id": 25787,
"dbsnp": "rs759480785",
"frequency_reference_population": 0.000015488777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000143651,
"gnomad_genomes_af": 0.0000262822,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8409672975540161,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.542,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3643,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.207,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_025082.4",
"gene_symbol": "CENPT",
"hgnc_id": 25787,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1558C>T",
"hgvs_p": "p.Arg520Trp"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000565558.1",
"gene_symbol": "TSNAXIP1",
"hgnc_id": 18586,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.219+536G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}