← Back to variant description
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: 5-90783228-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=90783228&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADGRV1",
"hgnc_id": 17416,
"hgvs_c": "c.13336G>A",
"hgvs_p": "p.Gly4446Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_032119.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_score": -12,
"allele_count_reference_population": 344,
"alphamissense_prediction": null,
"alphamissense_score": 0.1173,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "5",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Inborn genetic diseases,Retinal dystrophy,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:1 LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012571990489959717,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "G",
"aa_start": 4446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 13435,
"cds_end": null,
"cds_length": 18921,
"cds_start": 13336,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "NM_032119.4",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13336G>A",
"hgvs_p": "p.Gly4446Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000405460.9",
"protein_coding": true,
"protein_id": "NP_115495.3",
"strand": true,
"transcript": "NM_032119.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6306,
"aa_ref": "G",
"aa_start": 4446,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 19557,
"cdna_start": 13435,
"cds_end": null,
"cds_length": 18921,
"cds_start": 13336,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "ENST00000405460.9",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13336G>A",
"hgvs_p": "p.Gly4446Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032119.4",
"protein_coding": true,
"protein_id": "ENSP00000384582.2",
"strand": true,
"transcript": "ENST00000405460.9",
"transcript_support_level": 1
},
{
"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": 6503,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000638510.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.603G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000638510.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2624,
"aa_ref": "G",
"aa_start": 764,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8141,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 7875,
"cds_start": 2290,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000425867.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.2290G>A",
"hgvs_p": "p.Gly764Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392618.3",
"strand": true,
"transcript": "ENST00000425867.3",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6313,
"aa_ref": "G",
"aa_start": 4453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19578,
"cdna_start": 13456,
"cds_end": null,
"cds_length": 18942,
"cds_start": 13357,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009963.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13357G>A",
"hgvs_p": "p.Gly4453Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865452.1",
"strand": true,
"transcript": "XM_017009963.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6312,
"aa_ref": "G",
"aa_start": 4452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19575,
"cdna_start": 13453,
"cds_end": null,
"cds_length": 18939,
"cds_start": 13354,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009964.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13354G>A",
"hgvs_p": "p.Gly4452Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865453.1",
"strand": true,
"transcript": "XM_017009964.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6312,
"aa_ref": "G",
"aa_start": 4452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19594,
"cdna_start": 13472,
"cds_end": null,
"cds_length": 18939,
"cds_start": 13354,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009965.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13354G>A",
"hgvs_p": "p.Gly4452Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865454.1",
"strand": true,
"transcript": "XM_017009965.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6305,
"aa_ref": "G",
"aa_start": 4445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19554,
"cdna_start": 13432,
"cds_end": null,
"cds_length": 18918,
"cds_start": 13333,
"consequences": [
"missense_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_047417824.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13333G>A",
"hgvs_p": "p.Gly4445Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273780.1",
"strand": true,
"transcript": "XM_047417824.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6286,
"aa_ref": "G",
"aa_start": 4426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19497,
"cdna_start": 13375,
"cds_end": null,
"cds_length": 18861,
"cds_start": 13276,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 65,
"exon_rank_end": null,
"feature": "XM_017009966.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13276G>A",
"hgvs_p": "p.Gly4426Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865455.1",
"strand": true,
"transcript": "XM_017009966.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6281,
"aa_ref": "G",
"aa_start": 4421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19482,
"cdna_start": 13360,
"cds_end": null,
"cds_length": 18846,
"cds_start": 13261,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 65,
"exon_rank_end": null,
"feature": "XM_017009967.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13261G>A",
"hgvs_p": "p.Gly4421Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865456.1",
"strand": true,
"transcript": "XM_017009967.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6253,
"aa_ref": "G",
"aa_start": 4453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19398,
"cdna_start": 13456,
"cds_end": null,
"cds_length": 18762,
"cds_start": 13357,
"consequences": [
"missense_variant"
],
"exon_count": 89,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009968.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13357G>A",
"hgvs_p": "p.Gly4453Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865457.1",
"strand": true,
"transcript": "XM_017009968.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 6171,
"aa_ref": "G",
"aa_start": 4453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19208,
"cdna_start": 13456,
"cds_end": null,
"cds_length": 18516,
"cds_start": 13357,
"consequences": [
"missense_variant"
],
"exon_count": 88,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009969.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13357G>A",
"hgvs_p": "p.Gly4453Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865458.1",
"strand": true,
"transcript": "XM_017009969.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 5002,
"aa_ref": "G",
"aa_start": 4453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15211,
"cdna_start": 13456,
"cds_end": null,
"cds_length": 15009,
"cds_start": 13357,
"consequences": [
"missense_variant"
],
"exon_count": 74,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009970.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13357G>A",
"hgvs_p": "p.Gly4453Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865459.1",
"strand": true,
"transcript": "XM_017009970.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4963,
"aa_ref": "G",
"aa_start": 4453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 16023,
"cdna_start": 13456,
"cds_end": null,
"cds_length": 14892,
"cds_start": 13357,
"consequences": [
"missense_variant"
],
"exon_count": 73,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "XM_017009971.3",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.13357G>A",
"hgvs_p": "p.Gly4453Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865460.1",
"strand": true,
"transcript": "XM_017009971.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4019,
"aa_ref": "G",
"aa_start": 2159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12684,
"cdna_start": 6562,
"cds_end": null,
"cds_length": 12060,
"cds_start": 6475,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_017009972.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.6475G>A",
"hgvs_p": "p.Gly2159Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865461.1",
"strand": true,
"transcript": "XM_017009972.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 4012,
"aa_ref": "G",
"aa_start": 2152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12670,
"cdna_start": 6548,
"cds_end": null,
"cds_length": 12039,
"cds_start": 6454,
"consequences": [
"missense_variant"
],
"exon_count": 60,
"exon_rank": 36,
"exon_rank_end": null,
"feature": "XM_017009973.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.6454G>A",
"hgvs_p": "p.Gly2152Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016865462.1",
"strand": true,
"transcript": "XM_017009973.2",
"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": 19474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 90,
"exon_rank": 66,
"exon_rank_end": null,
"feature": "NR_003149.2",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.13352G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_003149.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 611,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000639431.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "n.265+107019G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000491057.1",
"strand": true,
"transcript": "ENST00000639431.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 390,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": null,
"cds_end": null,
"cds_length": 1173,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638975.1",
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"hgvs_c": "c.-36G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492630.1",
"strand": true,
"transcript": "ENST00000638975.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs542716344",
"effect": "missense_variant",
"frequency_reference_population": 0.00021320111,
"gene_hgnc_id": 17416,
"gene_symbol": "ADGRV1",
"gnomad_exomes_ac": 325,
"gnomad_exomes_af": 0.000222408,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_ac": 19,
"gnomad_genomes_af": 0.000124819,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 1,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified|not provided|Retinal dystrophy|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.773,
"pos": 90783228,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.2,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_032119.4"
}
]
}