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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: 17-78698835-CG-TA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78698835&ref=CG&alt=TA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYTH1",
"hgnc_id": 9501,
"hgvs_c": "c.689_690delCGinsTA",
"hgvs_p": "p.Pro230Leu",
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001365040.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"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": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3290,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1197,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004762.6",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000446868.8",
"protein_coding": true,
"protein_id": "NP_004753.1",
"strand": false,
"transcript": "NM_004762.6",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3290,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1197,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000446868.8",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004762.6",
"protein_coding": true,
"protein_id": "ENSP00000389095.3",
"strand": false,
"transcript": "ENST00000446868.8",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 399,
"aa_ref": "P",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1200,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365040.2",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.689_690delCGinsTA",
"hgvs_p": "p.Pro230Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351969.1",
"strand": false,
"transcript": "NM_001365040.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 399,
"aa_ref": "P",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3398,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1200,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589768.6",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.689_690delCGinsTA",
"hgvs_p": "p.Pro230Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467052.2",
"strand": false,
"transcript": "ENST00000589768.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 397,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1194,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017456.4",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_059430.2",
"strand": false,
"transcript": "NM_017456.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 397,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3286,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1194,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000591455.5",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465665.1",
"strand": false,
"transcript": "ENST00000591455.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 380,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1143,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365037.2",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351966.1",
"strand": false,
"transcript": "NM_001365037.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 372,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7307,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1119,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394677.1",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381606.1",
"strand": false,
"transcript": "NM_001394677.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1020,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001292018.4",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278947.1",
"strand": false,
"transcript": "NM_001292018.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3325,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1020,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001292019.4",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278948.1",
"strand": false,
"transcript": "NM_001292019.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 339,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1020,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585509.5",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465940.1",
"strand": false,
"transcript": "ENST00000585509.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3756,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1020,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589297.5",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466512.1",
"strand": false,
"transcript": "ENST00000589297.5",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 338,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 932,
"cds_end": null,
"cds_length": 1017,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365038.2",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351967.1",
"strand": false,
"transcript": "NM_001365038.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3433,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1017,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365039.2",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351968.1",
"strand": false,
"transcript": "NM_001365039.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1017,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365041.3",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351970.1",
"strand": false,
"transcript": "NM_001365041.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "P",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3322,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1017,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394676.1",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381605.1",
"strand": false,
"transcript": "NM_001394676.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 334,
"aa_ref": "P",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1161,
"cdna_start": 734,
"cds_end": null,
"cds_length": 1005,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883953.1",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.683_684delCGinsTA",
"hgvs_p": "p.Pro228Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554012.1",
"strand": false,
"transcript": "ENST00000883953.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1016,
"cds_end": null,
"cds_length": 942,
"cds_start": 506,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001394678.1",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.506_507delCGinsTA",
"hgvs_p": "p.Pro169Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381607.1",
"strand": false,
"transcript": "NM_001394678.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1230,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437076.1",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.716_717delCGinsTA",
"hgvs_p": "p.Pro239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293032.1",
"strand": false,
"transcript": "XM_047437076.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 408,
"aa_ref": "P",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1227,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437077.1",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.716_717delCGinsTA",
"hgvs_p": "p.Pro239Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293033.1",
"strand": false,
"transcript": "XM_047437077.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 392,
"aa_ref": "P",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4342,
"cdna_start": 905,
"cds_end": null,
"cds_length": 1179,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525475.4",
"gene_hgnc_id": 9501,
"gene_symbol": "CYTH1",
"hgvs_c": "c.716_717delCGinsTA",
"hgvs_p": "p.Pro239Leu",
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