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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: 2-205440431-ACT-TCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=205440431&ref=ACT&alt=TCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "PARD3B",
"hgnc_id": 14446,
"hgvs_c": "c.2803_2805delACTinsTCA",
"hgvs_p": "p.Thr935Ser",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001302769.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "T",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8492,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 3618,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001302769.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2803_2805delACTinsTCA",
"hgvs_p": "p.Thr935Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000406610.7",
"protein_coding": true,
"protein_id": "NP_001289698.1",
"strand": true,
"transcript": "NM_001302769.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "T",
"aa_start": 935,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8492,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 3618,
"cds_start": 2803,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000406610.7",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2803_2805delACTinsTCA",
"hgvs_p": "p.Thr935Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001302769.2",
"protein_coding": true,
"protein_id": "ENSP00000385848.2",
"strand": true,
"transcript": "ENST00000406610.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3432,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 3432,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358768.6",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2617_2619delACTinsTCA",
"hgvs_p": "p.Thr873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351618.2",
"strand": true,
"transcript": "ENST00000358768.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "T",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3411,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000351153.5",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2596_2598delACTinsTCA",
"hgvs_p": "p.Thr866Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317261.2",
"strand": true,
"transcript": "ENST00000351153.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1104,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": null,
"cds_end": null,
"cds_length": 3315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349953.7",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2741+39308_2741+39310delACTinsTCA",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340280.3",
"strand": true,
"transcript": "ENST00000349953.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "T",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8306,
"cdna_start": 3142,
"cds_end": null,
"cds_length": 3432,
"cds_start": 2617,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152526.6",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2617_2619delACTinsTCA",
"hgvs_p": "p.Thr873Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689739.4",
"strand": true,
"transcript": "NM_152526.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1136,
"aa_ref": "T",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8285,
"cdna_start": 3121,
"cds_end": null,
"cds_length": 3411,
"cds_start": 2596,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_057177.7",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2596_2598delACTinsTCA",
"hgvs_p": "p.Thr866Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_476518.4",
"strand": true,
"transcript": "NM_057177.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "T",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8519,
"cdna_start": 3355,
"cds_end": null,
"cds_length": 3642,
"cds_start": 2827,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011510552.3",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2827_2829delACTinsTCA",
"hgvs_p": "p.Thr943Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508854.1",
"strand": true,
"transcript": "XM_011510552.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1213,
"aa_ref": "T",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13829,
"cdna_start": 8665,
"cds_end": null,
"cds_length": 3642,
"cds_start": 2827,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443208.1",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2827_2829delACTinsTCA",
"hgvs_p": "p.Thr943Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299164.1",
"strand": true,
"transcript": "XM_047443208.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "T",
"aa_start": 923,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8460,
"cdna_start": 3296,
"cds_end": null,
"cds_length": 3582,
"cds_start": 2767,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003283.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2767_2769delACTinsTCA",
"hgvs_p": "p.Thr923Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858772.1",
"strand": true,
"transcript": "XM_017003283.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "T",
"aa_start": 913,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19677,
"cdna_start": 14513,
"cds_end": null,
"cds_length": 3552,
"cds_start": 2737,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003284.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2737_2739delACTinsTCA",
"hgvs_p": "p.Thr913Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858773.1",
"strand": true,
"transcript": "XM_017003284.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "T",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13062,
"cdna_start": 7898,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2641,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003285.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2641_2643delACTinsTCA",
"hgvs_p": "p.Thr881Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858774.1",
"strand": true,
"transcript": "XM_017003285.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "T",
"aa_start": 879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19573,
"cdna_start": 14409,
"cds_end": null,
"cds_length": 3450,
"cds_start": 2635,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003286.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2635_2637delACTinsTCA",
"hgvs_p": "p.Thr879Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858775.1",
"strand": true,
"transcript": "XM_017003286.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "T",
"aa_start": 943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8865,
"cdna_start": 8082,
"cds_end": null,
"cds_length": 3384,
"cds_start": 2827,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003287.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2827_2829delACTinsTCA",
"hgvs_p": "p.Thr943Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858776.1",
"strand": true,
"transcript": "XM_017003287.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "T",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19388,
"cdna_start": 14224,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2449,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443209.1",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2449_2451delACTinsTCA",
"hgvs_p": "p.Thr817Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299165.1",
"strand": true,
"transcript": "XM_047443209.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1038,
"aa_ref": "T",
"aa_start": 768,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7621,
"cdna_start": 2457,
"cds_end": null,
"cds_length": 3117,
"cds_start": 2302,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003289.1",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2302_2304delACTinsTCA",
"hgvs_p": "p.Thr768Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858778.1",
"strand": true,
"transcript": "XM_017003289.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "T",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8058,
"cdna_start": 2894,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003292.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2206_2208delACTinsTCA",
"hgvs_p": "p.Thr736Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858781.1",
"strand": true,
"transcript": "XM_017003292.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1006,
"aa_ref": "T",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7547,
"cdna_start": 2383,
"cds_end": null,
"cds_length": 3021,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003293.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2206_2208delACTinsTCA",
"hgvs_p": "p.Thr736Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858782.1",
"strand": true,
"transcript": "XM_017003293.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1104,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8189,
"cdna_start": null,
"cds_end": null,
"cds_length": 3315,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_205863.4",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2741+39308_2741+39310delACTinsTCA",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_995585.2",
"strand": true,
"transcript": "NM_205863.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1112,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12944,
"cdna_start": null,
"cds_end": null,
"cds_length": 3339,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017003288.2",
"gene_hgnc_id": 14446,
"gene_symbol": "PARD3B",
"hgvs_c": "c.2765+39308_2765+39310delACTinsTCA",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016858777.1",
"strand": true,
"transcript": "XM_017003288.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 576,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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