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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: 19-10320666-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10320666&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAVER1",
"hgnc_id": 30296,
"hgvs_c": "c.1759G>T",
"hgvs_p": "p.Asp587Tyr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_133452.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000267303",
"hgnc_id": null,
"hgvs_c": "n.13G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000586529.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.354,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4658791124820709,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 739,
"aa_ref": "D",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_133452.3",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1759G>T",
"hgvs_p": "p.Asp587Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617231.5",
"protein_coding": true,
"protein_id": "NP_597709.3",
"strand": false,
"transcript": "NM_133452.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 739,
"aa_ref": "D",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000617231.5",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1759G>T",
"hgvs_p": "p.Asp587Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133452.3",
"protein_coding": true,
"protein_id": "ENSP00000482277.1",
"strand": false,
"transcript": "ENST00000617231.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1850,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000586529.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267303",
"hgvs_c": "n.13G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000467814.1",
"strand": false,
"transcript": "ENST00000586529.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000592208.5",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "n.2993G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000592208.5",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 764,
"aa_ref": "D",
"aa_start": 612,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 1855,
"cds_end": null,
"cds_length": 2295,
"cds_start": 1834,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000910906.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1834G>T",
"hgvs_p": "p.Asp612Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580965.1",
"strand": false,
"transcript": "ENST00000910906.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 753,
"aa_ref": "D",
"aa_start": 601,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 1822,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1801,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000910904.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1801G>T",
"hgvs_p": "p.Asp601Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580963.1",
"strand": false,
"transcript": "ENST00000910904.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 738,
"aa_ref": "D",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3487,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1756,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910894.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1756G>T",
"hgvs_p": "p.Asp586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580954.1",
"strand": false,
"transcript": "ENST00000910894.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 738,
"aa_ref": "D",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3480,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1756,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911330.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1756G>T",
"hgvs_p": "p.Asp586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581389.1",
"strand": false,
"transcript": "ENST00000911330.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 734,
"aa_ref": "D",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3469,
"cdna_start": 1766,
"cds_end": null,
"cds_length": 2205,
"cds_start": 1744,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910898.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1744G>T",
"hgvs_p": "p.Asp582Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580957.1",
"strand": false,
"transcript": "ENST00000910898.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 714,
"aa_ref": "D",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1706,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1684,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001366174.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1684G>T",
"hgvs_p": "p.Asp562Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353103.1",
"strand": false,
"transcript": "NM_001366174.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 691,
"aa_ref": "D",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 2076,
"cds_start": 1759,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910893.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1759G>T",
"hgvs_p": "p.Asp587Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580951.1",
"strand": false,
"transcript": "ENST00000910893.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 690,
"aa_ref": "D",
"aa_start": 586,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3336,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2073,
"cds_start": 1756,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000910905.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1756G>T",
"hgvs_p": "p.Asp586Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580964.1",
"strand": false,
"transcript": "ENST00000910905.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 675,
"aa_ref": "D",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3292,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000910901.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1567G>T",
"hgvs_p": "p.Asp523Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580961.1",
"strand": false,
"transcript": "ENST00000910901.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 560,
"aa_ref": "D",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1683,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000910900.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.1222G>T",
"hgvs_p": "p.Asp408Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580958.1",
"strand": false,
"transcript": "ENST00000910900.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 475,
"aa_ref": "D",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2682,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1428,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000911331.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.967G>T",
"hgvs_p": "p.Asp323Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581390.1",
"strand": false,
"transcript": "ENST00000911331.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "D",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 791,
"cds_end": null,
"cds_length": 1203,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047438143.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.742G>T",
"hgvs_p": "p.Asp248Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294099.1",
"strand": false,
"transcript": "XM_047438143.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 485,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": null,
"cds_end": null,
"cds_length": 1458,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047438141.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.*14G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294097.1",
"strand": false,
"transcript": "XM_047438141.1",
"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": 470,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000585935.5",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "n.307G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585935.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000593136.2",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "n.407G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000593136.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1489,
"cdna_start": null,
"cds_end": null,
"cds_length": 1359,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047438142.1",
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"hgvs_c": "c.*188G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294098.1",
"strand": true,
"transcript": "XM_047438142.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs368092939",
"effect": "missense_variant",
"frequency_reference_population": 0.0000021412297,
"gene_hgnc_id": 30296,
"gene_symbol": "RAVER1",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000214123,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
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}
]
}