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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: 19-49861800-T-TGTTGTCGATGGCGACCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49861800&ref=T&alt=TGTTGTCGATGGCGACCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49861800,
"ref": "T",
"alt": "TGTTGTCGATGGCGACCC",
"effect": "frameshift_variant",
"transcript": "NM_007254.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1253_1269dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr424fs",
"transcript": "NM_007254.4",
"protein_id": "NP_009185.2",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 521,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322344.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007254.4"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1253_1269dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr424fs",
"transcript": "ENST00000322344.8",
"protein_id": "ENSP00000323511.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 521,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007254.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322344.8"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1253_1269dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr424fs",
"transcript": "ENST00000596014.5",
"protein_id": "ENSP00000472300.1",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 521,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596014.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "n.*1180_*1196dupGGGTCGCCATCGACAAC",
"hgvs_p": null,
"transcript": "ENST00000593946.5",
"protein_id": "ENSP00000468896.1",
"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": "ENST00000593946.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "n.*1180_*1196dupGGGTCGCCATCGACAAC",
"hgvs_p": null,
"transcript": "ENST00000593946.5",
"protein_id": "ENSP00000468896.1",
"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": "ENST00000593946.5"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1280_1296dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr433fs",
"transcript": "ENST00000861313.1",
"protein_id": "ENSP00000531372.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 530,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861313.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1280_1296dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr433fs",
"transcript": "ENST00000934451.1",
"protein_id": "ENSP00000604510.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 530,
"cds_start": 1296,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934451.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1253_1269dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr424fs",
"transcript": "ENST00000934445.1",
"protein_id": "ENSP00000604504.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 521,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934445.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1253_1269dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr424fs",
"transcript": "ENST00000934450.1",
"protein_id": "ENSP00000604509.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 521,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934450.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1232_1248dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr417fs",
"transcript": "ENST00000934449.1",
"protein_id": "ENSP00000604508.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 514,
"cds_start": 1248,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934449.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1220_1236dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr413fs",
"transcript": "ENST00000965095.1",
"protein_id": "ENSP00000635154.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 510,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965095.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1214_1230dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr411fs",
"transcript": "ENST00000934448.1",
"protein_id": "ENSP00000604507.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 508,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934448.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1211_1227dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr410fs",
"transcript": "ENST00000861311.1",
"protein_id": "ENSP00000531370.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 507,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861311.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1160_1176dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr393fs",
"transcript": "ENST00000600573.5",
"protein_id": "ENSP00000469826.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 490,
"cds_start": 1176,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600573.5"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1145_1161dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr388fs",
"transcript": "ENST00000631020.2",
"protein_id": "ENSP00000486707.1",
"transcript_support_level": 5,
"aa_start": 387,
"aa_end": null,
"aa_length": 485,
"cds_start": 1161,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000631020.2"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1127_1143dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr382fs",
"transcript": "ENST00000861312.1",
"protein_id": "ENSP00000531371.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 479,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861312.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1127_1143dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr382fs",
"transcript": "ENST00000965096.1",
"protein_id": "ENSP00000635155.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 479,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965096.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1106_1122dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr375fs",
"transcript": "ENST00000965094.1",
"protein_id": "ENSP00000635153.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 472,
"cds_start": 1122,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965094.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1022_1038dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr347fs",
"transcript": "ENST00000934446.1",
"protein_id": "ENSP00000604505.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 444,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934446.1"
},
{
"aa_ref": "N",
"aa_alt": "NGSPST?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.953_969dupGGGTCGCCATCGACAAC",
"hgvs_p": "p.Thr324fs",
"transcript": "ENST00000934452.1",
"protein_id": "ENSP00000604511.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 421,
"cds_start": 969,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "c.1189-122_1189-106dupGGGTCGCCATCGACAAC",
"hgvs_p": null,
"transcript": "ENST00000934444.1",
"protein_id": "ENSP00000604503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934444.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
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"allele_count_reference_population": 468,
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"splice_score_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": null,
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"phylop100way_score": 5.037,
"phylop100way_prediction": "Uncertain_significance",
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"dbscsnv_ada_score": null,
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"mitotip_score": null,
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"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
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],
"verdict": "Pathogenic",
"transcript": "NM_007254.4",
"gene_symbol": "PNKP",
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"effects": [
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"inheritance_mode": "AR,AD",
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"hgvs_p": "p.Thr424fs"
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"clinvar_disease": " 12, and developmental delay, seizures,Abnormality of the nervous system,Ataxia - oculomotor apraxia type 4,Developmental and epileptic encephalopathy,Inborn genetic diseases,Intellectual disability,Microcephaly,Seizure,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:14",
"phenotype_combined": "Microcephaly, seizures, and developmental delay|Ataxia - oculomotor apraxia type 4|not provided|Intellectual disability|Abnormality of the nervous system|Seizure|Developmental and epileptic encephalopathy, 12|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}