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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: 1-179551188-GTCTT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=179551188&ref=GTCTT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 179551188,
"ref": "GTCTT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_014625.4",
"consequences": [
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.1133_1136delAAGA",
"hgvs_p": "p.Lys378fs",
"transcript": "NM_014625.4",
"protein_id": "NP_055440.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 383,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "ENST00000367615.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.1133_1136delAAGA",
"hgvs_p": "p.Lys378fs",
"transcript": "ENST00000367615.9",
"protein_id": "ENSP00000356587.4",
"transcript_support_level": 1,
"aa_start": 378,
"aa_end": null,
"aa_length": 383,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 1220,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": "NM_014625.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.929_932delAAGA",
"hgvs_p": "p.Lys310fs",
"transcript": "ENST00000367616.4",
"protein_id": "ENSP00000356588.4",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 315,
"cds_start": 929,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 1670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3032-3318_3032-3315delCTTT",
"hgvs_p": null,
"transcript": "NM_144696.6",
"protein_id": "NP_653297.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": "ENST00000367618.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3032-3318_3032-3315delCTTT",
"hgvs_p": null,
"transcript": "ENST00000367618.8",
"protein_id": "ENSP00000356590.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1012,
"cds_start": -4,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3391,
"mane_select": "NM_144696.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2612-3318_2612-3315delCTTT",
"hgvs_p": null,
"transcript": "ENST00000434088.1",
"protein_id": "ENSP00000391716.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 872,
"cds_start": -4,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.*1301-3318_*1301-3315delCTTT",
"hgvs_p": null,
"transcript": "ENST00000511157.5",
"protein_id": "ENSP00000424373.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.929_932delAAGA",
"hgvs_p": "p.Lys310fs",
"transcript": "NM_001297575.2",
"protein_id": "NP_001284504.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 315,
"cds_start": 929,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.956_959delAAGA",
"hgvs_p": "p.Lys319fs",
"transcript": "XM_005245483.4",
"protein_id": "XP_005245540.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 324,
"cds_start": 956,
"cds_end": null,
"cds_length": 975,
"cdna_start": 1043,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KD",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPHS2",
"gene_hgnc_id": 13394,
"hgvs_c": "c.800_803delAAGA",
"hgvs_p": "p.Lys267fs",
"transcript": "XM_017002298.2",
"protein_id": "XP_016857787.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 272,
"cds_start": 800,
"cds_end": null,
"cds_length": 819,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.128_131delCTTT",
"hgvs_p": null,
"transcript": "ENST00000489080.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.*1207-3318_*1207-3315delCTTT",
"hgvs_p": null,
"transcript": "ENST00000617277.4",
"protein_id": "ENSP00000482167.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.471-3318_471-3315delCTTT",
"hgvs_p": null,
"transcript": "ENST00000484455.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.911-3318_911-3315delCTTT",
"hgvs_p": null,
"transcript": "ENST00000484883.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "n.3080-3318_3080-3315delCTTT",
"hgvs_p": null,
"transcript": "NR_073544.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3318_3038-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509165.2",
"protein_id": "XP_011507467.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1014,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3318_3038-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509166.4",
"protein_id": "XP_011507468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3318_3038-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509167.4",
"protein_id": "XP_011507469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": -4,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
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"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.3038-3318_3038-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509168.2",
"protein_id": "XP_011507470.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2975-3318_2975-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509169.2",
"protein_id": "XP_011507471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2930-3318_2930-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509170.2",
"protein_id": "XP_011507472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 978,
"cds_start": -4,
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"cds_length": 2937,
"cdna_start": null,
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"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
"gene_hgnc_id": 26564,
"hgvs_c": "c.2912-3318_2912-3315delCTTT",
"hgvs_p": null,
"transcript": "XM_011509171.2",
"protein_id": "XP_011507473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "AXDND1",
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{
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],
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{
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],
"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "Nephrotic syndrome, type 2",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}