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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: 7-100803503-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100803503&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "EPHB4",
"hgnc_id": 3395,
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Pro974Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_004444.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 987,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3415,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_004444.5",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358173.8",
"protein_coding": true,
"protein_id": "NP_004435.3",
"strand": false,
"transcript": "NM_004444.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 987,
"aa_ref": "P",
"aa_start": 974,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3415,
"cds_end": null,
"cds_length": 2964,
"cds_start": 2922,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000358173.8",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2922G>A",
"hgvs_p": "p.Pro974Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004444.5",
"protein_coding": true,
"protein_id": "ENSP00000350896.3",
"strand": false,
"transcript": "ENST00000358173.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 935,
"aa_ref": "P",
"aa_start": 922,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 2851,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2766,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000360620.7",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2766G>A",
"hgvs_p": "p.Pro922Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353833.3",
"strand": false,
"transcript": "ENST00000360620.7",
"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": 5058,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000487222.5",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "n.4123G>A",
"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": "ENST00000487222.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1045,
"aa_ref": "P",
"aa_start": 1032,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4481,
"cdna_start": 3559,
"cds_end": null,
"cds_length": 3138,
"cds_start": 3096,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000922076.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.3096G>A",
"hgvs_p": "p.Pro1032Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592135.1",
"strand": false,
"transcript": "ENST00000922076.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1042,
"aa_ref": "P",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4550,
"cdna_start": 3612,
"cds_end": null,
"cds_length": 3129,
"cds_start": 3087,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922072.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.3087G>A",
"hgvs_p": "p.Pro1029Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592131.1",
"strand": false,
"transcript": "ENST00000922072.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "P",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 3442,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2976,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000856891.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2976G>A",
"hgvs_p": "p.Pro992Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526950.1",
"strand": false,
"transcript": "ENST00000856891.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "P",
"aa_start": 987,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3402,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2961,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000856892.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2961G>A",
"hgvs_p": "p.Pro987Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526951.1",
"strand": false,
"transcript": "ENST00000856892.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 991,
"aa_ref": "P",
"aa_start": 978,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4213,
"cdna_start": 3273,
"cds_end": null,
"cds_length": 2976,
"cds_start": 2934,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000856893.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2934G>A",
"hgvs_p": "p.Pro978Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526952.1",
"strand": false,
"transcript": "ENST00000856893.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 983,
"aa_ref": "P",
"aa_start": 970,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4285,
"cdna_start": 3363,
"cds_end": null,
"cds_length": 2952,
"cds_start": 2910,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971336.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2910G>A",
"hgvs_p": "p.Pro970Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641395.1",
"strand": false,
"transcript": "ENST00000971336.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 945,
"aa_ref": "P",
"aa_start": 932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4226,
"cdna_start": 3289,
"cds_end": null,
"cds_length": 2838,
"cds_start": 2796,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922073.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2796G>A",
"hgvs_p": "p.Pro932Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592132.1",
"strand": false,
"transcript": "ENST00000922073.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 931,
"aa_ref": "P",
"aa_start": 918,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 3247,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2754,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856888.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2754G>A",
"hgvs_p": "p.Pro918Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526947.1",
"strand": false,
"transcript": "ENST00000856888.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "P",
"aa_start": 911,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 3208,
"cds_end": null,
"cds_length": 2775,
"cds_start": 2733,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000922074.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2733G>A",
"hgvs_p": "p.Pro911Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592133.1",
"strand": false,
"transcript": "ENST00000922074.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 920,
"aa_ref": "P",
"aa_start": 907,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4171,
"cdna_start": 3235,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2721,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971335.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2721G>A",
"hgvs_p": "p.Pro907Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641394.1",
"strand": false,
"transcript": "ENST00000971335.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 890,
"aa_ref": "P",
"aa_start": 877,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 3111,
"cds_end": null,
"cds_length": 2673,
"cds_start": 2631,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000922075.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2631G>A",
"hgvs_p": "p.Pro877Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592134.1",
"strand": false,
"transcript": "ENST00000922075.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 876,
"aa_ref": "P",
"aa_start": 863,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4014,
"cdna_start": 3076,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2589,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000856889.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2589G>A",
"hgvs_p": "p.Pro863Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526948.1",
"strand": false,
"transcript": "ENST00000856889.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 824,
"aa_ref": "P",
"aa_start": 811,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3852,
"cdna_start": 2925,
"cds_end": null,
"cds_length": 2475,
"cds_start": 2433,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856890.1",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2433G>A",
"hgvs_p": "p.Pro811Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526949.1",
"strand": false,
"transcript": "ENST00000856890.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "P",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4407,
"cdna_start": 3469,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2976,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_017011816.2",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.2976G>A",
"hgvs_p": "p.Pro992Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016867305.1",
"strand": false,
"transcript": "XM_017011816.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 306,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": null,
"cds_end": null,
"cds_length": 921,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000616502.4",
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"hgvs_c": "c.*1387G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482702.1",
"strand": false,
"transcript": "ENST00000616502.4",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs564273618",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000075610365,
"gene_hgnc_id": 3395,
"gene_symbol": "EPHB4",
"gnomad_exomes_ac": 11,
"gnomad_exomes_af": 0.00000766594,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657177,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Cardiovascular phenotype",
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.515,
"pos": 100803503,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_004444.5"
}
]
}