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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: 16-90037308-GC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=90037308&ref=GC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DRC4",
"hgnc_id": 4166,
"hgvs_c": "c.833_834delGCinsTG",
"hgvs_p": "p.Arg278Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001481.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GAS8",
"hgnc_id": 4166,
"hgvs_c": "c.833_834delGCinsTG",
"hgvs_p": "p.Arg278Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000268699.9",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"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": 478,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1437,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001481.3",
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"hgvs_c": "c.833_834delGCinsTG",
"hgvs_p": "p.Arg278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000268699.9",
"protein_coding": true,
"protein_id": "NP_001472.1",
"strand": true,
"transcript": "NM_001481.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 478,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1437,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000268699.9",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.833_834delGCinsTG",
"hgvs_p": "p.Arg278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001481.3",
"protein_coding": true,
"protein_id": "ENSP00000268699.4",
"strand": true,
"transcript": "ENST00000268699.9",
"transcript_support_level": 1
},
{
"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": 3174,
"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": "ENST00000566266.5",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "n.*793_*794delGCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454343.1",
"strand": true,
"transcript": "ENST00000566266.5",
"transcript_support_level": 1
},
{
"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": 3174,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000566266.5",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "n.*793_*794delGCinsTG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000454343.1",
"strand": true,
"transcript": "ENST00000566266.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 476,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 873,
"cds_end": null,
"cds_length": 1431,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889287.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.827_828delGCinsTG",
"hgvs_p": "p.Arg276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559346.1",
"strand": true,
"transcript": "ENST00000889287.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 904,
"cds_end": null,
"cds_length": 1428,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000889286.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.833_834delGCinsTG",
"hgvs_p": "p.Arg278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559345.1",
"strand": true,
"transcript": "ENST00000889286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 474,
"aa_ref": "R",
"aa_start": 274,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1578,
"cdna_start": 850,
"cds_end": null,
"cds_length": 1425,
"cds_start": 821,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964023.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.821_822delGCinsTG",
"hgvs_p": "p.Arg274Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634082.1",
"strand": true,
"transcript": "ENST00000964023.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1362,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286209.2",
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"hgvs_c": "c.758_759delGCinsTG",
"hgvs_p": "p.Arg253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273138.1",
"strand": true,
"transcript": "NM_001286209.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 453,
"aa_ref": "R",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1362,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536122.7",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.758_759delGCinsTG",
"hgvs_p": "p.Arg253Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440977.1",
"strand": true,
"transcript": "ENST00000536122.7",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "R",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1350,
"cds_start": 833,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964021.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.833_834delGCinsTG",
"hgvs_p": "p.Arg278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634080.1",
"strand": true,
"transcript": "ENST00000964021.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1188,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286205.2",
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"hgvs_c": "c.584_585delGCinsTG",
"hgvs_p": "p.Arg195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273134.1",
"strand": true,
"transcript": "NM_001286205.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1188,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000620723.4",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.584_585delGCinsTG",
"hgvs_p": "p.Arg195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482877.1",
"strand": true,
"transcript": "ENST00000620723.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 943,
"cds_end": null,
"cds_length": 861,
"cds_start": 257,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001286208.2",
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"hgvs_c": "c.257_258delGCinsTG",
"hgvs_p": "p.Arg86Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001273137.1",
"strand": true,
"transcript": "NM_001286208.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 256,
"aa_ref": "R",
"aa_start": 56,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 212,
"cds_end": null,
"cds_length": 771,
"cds_start": 167,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964022.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "c.167_168delGCinsTG",
"hgvs_p": "p.Arg56Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634081.1",
"strand": true,
"transcript": "ENST00000964022.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1188,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006721175.4",
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"hgvs_c": "c.584_585delGCinsTG",
"hgvs_p": "p.Arg195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721238.1",
"strand": true,
"transcript": "XM_006721175.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 395,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1188,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011522992.3",
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"hgvs_c": "c.584_585delGCinsTG",
"hgvs_p": "p.Arg195Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521294.1",
"strand": true,
"transcript": "XM_011522992.3",
"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": 1308,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000540721.5",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "n.804_805delGCinsTG",
"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": "ENST00000540721.5",
"transcript_support_level": 2
},
{
"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": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000564802.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "n.431_432delGCinsTG",
"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": "ENST00000564802.1",
"transcript_support_level": 3
},
{
"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": 856,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000569399.1",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "n.468_469delGCinsTG",
"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": "ENST00000569399.1",
"transcript_support_level": 2
},
{
"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": 3856,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000569558.5",
"gene_hgnc_id": 4166,
"gene_symbol": "GAS8",
"hgvs_c": "n.1636_1637delGCinsTG",
"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": "ENST00000569558.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 4166,
"gene_symbol": "DRC4",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
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}
]
}