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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: 16-2040233-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2040233&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NTHL1",
"hgnc_id": 8028,
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_002528.7",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9278,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9411813616752625,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 304,
"aa_ref": "D",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 702,
"cds_end": null,
"cds_length": 915,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002528.7",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651570.2",
"protein_coding": true,
"protein_id": "NP_002519.2",
"strand": false,
"transcript": "NM_002528.7",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 304,
"aa_ref": "D",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 702,
"cds_end": null,
"cds_length": 915,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000651570.2",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002528.7",
"protein_coding": true,
"protein_id": "ENSP00000498421.1",
"strand": false,
"transcript": "ENST00000651570.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 312,
"aa_ref": "D",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 734,
"cds_end": null,
"cds_length": 939,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000219066.5",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.715G>T",
"hgvs_p": "p.Asp239Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000219066.1",
"strand": false,
"transcript": "ENST00000219066.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 309,
"aa_ref": "D",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1061,
"cdna_start": 713,
"cds_end": null,
"cds_length": 930,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925707.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595766.1",
"strand": false,
"transcript": "ENST00000925707.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 308,
"aa_ref": "D",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1058,
"cdna_start": 710,
"cds_end": null,
"cds_length": 927,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971053.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Asp230Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641114.1",
"strand": false,
"transcript": "ENST00000971053.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 306,
"aa_ref": "D",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1052,
"cdna_start": 724,
"cds_end": null,
"cds_length": 921,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925708.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.697G>T",
"hgvs_p": "p.Asp233Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595767.1",
"strand": false,
"transcript": "ENST00000925708.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 305,
"aa_ref": "D",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 724,
"cds_end": null,
"cds_length": 918,
"cds_start": 694,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903567.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.694G>T",
"hgvs_p": "p.Asp232Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573626.1",
"strand": false,
"transcript": "ENST00000903567.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 304,
"aa_ref": "D",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1042,
"cdna_start": 715,
"cds_end": null,
"cds_length": 915,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903569.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.691G>T",
"hgvs_p": "p.Asp231Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573628.1",
"strand": false,
"transcript": "ENST00000903569.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 303,
"aa_ref": "D",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 723,
"cds_end": null,
"cds_length": 912,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000903566.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.688G>T",
"hgvs_p": "p.Asp230Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573625.1",
"strand": false,
"transcript": "ENST00000903566.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 302,
"aa_ref": "D",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 710,
"cds_end": null,
"cds_length": 909,
"cds_start": 685,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925706.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.685G>T",
"hgvs_p": "p.Asp229Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595765.1",
"strand": false,
"transcript": "ENST00000925706.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 266,
"aa_ref": "D",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": 591,
"cds_end": null,
"cds_length": 801,
"cds_start": 577,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925711.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.577G>T",
"hgvs_p": "p.Asp193Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595770.1",
"strand": false,
"transcript": "ENST00000925711.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 264,
"aa_ref": "D",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 921,
"cdna_start": 593,
"cds_end": null,
"cds_length": 795,
"cds_start": 571,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000925709.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.571G>T",
"hgvs_p": "p.Asp191Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595768.1",
"strand": false,
"transcript": "ENST00000925709.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 247,
"aa_ref": "D",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 531,
"cds_end": null,
"cds_length": 744,
"cds_start": 520,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001318193.2",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Asp174Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305122.2",
"strand": false,
"transcript": "NM_001318193.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 246,
"aa_ref": "D",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 861,
"cdna_start": 528,
"cds_end": null,
"cds_length": 741,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925710.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.517G>T",
"hgvs_p": "p.Asp173Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595769.1",
"strand": false,
"transcript": "ENST00000925710.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 235,
"aa_ref": "D",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 486,
"cds_end": null,
"cds_length": 708,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000566380.5",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.484G>T",
"hgvs_p": "p.Asp162Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455267.1",
"strand": false,
"transcript": "ENST00000566380.5",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 232,
"aa_ref": "D",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 802,
"cdna_start": 475,
"cds_end": null,
"cds_length": 699,
"cds_start": 475,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000651583.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.475G>T",
"hgvs_p": "p.Asp159Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498821.1",
"strand": false,
"transcript": "ENST00000651583.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 208,
"aa_ref": "D",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 733,
"cdna_start": 403,
"cds_end": null,
"cds_length": 627,
"cds_start": 403,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000651522.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.403G>T",
"hgvs_p": "p.Asp135Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498290.1",
"strand": false,
"transcript": "ENST00000651522.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 194,
"aa_ref": "D",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 878,
"cdna_start": 550,
"cds_end": null,
"cds_length": 585,
"cds_start": 361,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001318194.2",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Asp121Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305123.1",
"strand": false,
"transcript": "NM_001318194.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 115,
"aa_ref": "D",
"aa_start": 42,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 463,
"cdna_start": 135,
"cds_end": null,
"cds_length": 348,
"cds_start": 124,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000925713.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.124G>T",
"hgvs_p": "p.Asp42Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595772.1",
"strand": false,
"transcript": "ENST00000925713.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 114,
"aa_ref": "D",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 481,
"cdna_start": 148,
"cds_end": null,
"cds_length": 345,
"cds_start": 121,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000925705.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.121G>T",
"hgvs_p": "p.Asp41Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595764.1",
"strand": false,
"transcript": "ENST00000925705.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 211,
"aa_ref": "D",
"aa_start": 138,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": 727,
"cds_end": null,
"cds_length": 636,
"cds_start": 412,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047434171.1",
"gene_hgnc_id": 8028,
"gene_symbol": "NTHL1",
"hgvs_c": "c.412G>T",
"hgvs_p": "p.Asp138Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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