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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: 17-20204560-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=20204560&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "SPECC1",
"hgnc_id": 30615,
"hgvs_c": "c.-162C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001386080.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000263494",
"hgnc_id": null,
"hgvs_c": "n.105+19374C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000580225.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.1883,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2342539131641388,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8255,
"cdna_start": 598,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001243439.2",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395527.9",
"protein_coding": true,
"protein_id": "NP_001230368.1",
"strand": true,
"transcript": "NM_001243439.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8255,
"cdna_start": 598,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395527.9",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001243439.2",
"protein_coding": true,
"protein_id": "ENSP00000378898.4",
"strand": true,
"transcript": "ENST00000395527.9",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3948,
"cdna_start": 562,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000261503.9",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261503.5",
"strand": true,
"transcript": "ENST00000261503.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 987,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8133,
"cdna_start": 476,
"cds_end": null,
"cds_length": 2964,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395530.6",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Arg90Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378901.2",
"strand": true,
"transcript": "ENST00000395530.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 790,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4971,
"cdna_start": 563,
"cds_end": null,
"cds_length": 2373,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000395529.7",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378900.3",
"strand": true,
"transcript": "ENST00000395529.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 709,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 376,
"cds_end": null,
"cds_length": 2130,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395525.7",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Arg90Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378896.3",
"strand": true,
"transcript": "ENST00000395525.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 703,
"aa_ref": "R",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2982,
"cdna_start": 382,
"cds_end": null,
"cds_length": 2112,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000395522.6",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.268C>G",
"hgvs_p": "p.Arg90Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378893.2",
"strand": true,
"transcript": "ENST00000395522.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 844,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4086,
"cdna_start": null,
"cds_end": null,
"cds_length": 2535,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001386080.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.-162C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373009.1",
"strand": true,
"transcript": "NM_001386080.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8219,
"cdna_start": 562,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001033553.3",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001028725.1",
"strand": true,
"transcript": "NM_001033553.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8512,
"cdna_start": 855,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001386083.2",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373012.2",
"strand": true,
"transcript": "NM_001386083.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 694,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000677914.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503971.1",
"strand": true,
"transcript": "ENST00000677914.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4035,
"cdna_start": 669,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679058.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502924.1",
"strand": true,
"transcript": "ENST00000679058.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4214,
"cdna_start": 848,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679255.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504211.1",
"strand": true,
"transcript": "ENST00000679255.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 759,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000851980.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522039.1",
"strand": true,
"transcript": "ENST00000851980.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4053,
"cdna_start": 664,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000851981.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522040.1",
"strand": true,
"transcript": "ENST00000851981.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 783,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965406.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635465.1",
"strand": true,
"transcript": "ENST00000965406.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1068,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4216,
"cdna_start": 830,
"cds_end": null,
"cds_length": 3207,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965407.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635466.1",
"strand": true,
"transcript": "ENST00000965407.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 3153,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000678321.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503822.1",
"strand": true,
"transcript": "ENST00000678321.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1050,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 578,
"cds_end": null,
"cds_length": 3153,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000681564.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506710.1",
"strand": true,
"transcript": "ENST00000681564.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3928,
"cdna_start": 598,
"cds_end": null,
"cds_length": 3147,
"cds_start": 511,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001386082.1",
"gene_hgnc_id": 30615,
"gene_symbol": "SPECC1",
"hgvs_c": "c.511C>G",
"hgvs_p": "p.Arg171Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373011.1",
"strand": true,
"transcript": "NM_001386082.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1048,
"aa_ref": "R",
"aa_start": 171,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4284,
"cdna_start": 1092,
"cds_end": null,
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