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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: 19-15453161-CA-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15453161&ref=CA&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RASAL3",
"hgnc_id": 26129,
"hgvs_c": "c.2624_2625delTGinsCA",
"hgvs_p": "p.Met875Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001400377.1",
"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": "19",
"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": "T",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "M",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_022904.3",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2615_2616delTGinsCA",
"hgvs_p": "p.Met872Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343625.12",
"protein_coding": true,
"protein_id": "NP_075055.1",
"strand": false,
"transcript": "NM_022904.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "M",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343625.12",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2615_2616delTGinsCA",
"hgvs_p": "p.Met872Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022904.3",
"protein_coding": true,
"protein_id": "ENSP00000341905.5",
"strand": false,
"transcript": "ENST00000343625.12",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1020,
"aa_ref": "M",
"aa_start": 881,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 3063,
"cds_start": 2642,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909962.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2642_2643delTGinsCA",
"hgvs_p": "p.Met881Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580021.1",
"strand": false,
"transcript": "ENST00000909962.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3275,
"cdna_start": 2684,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400377.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2624_2625delTGinsCA",
"hgvs_p": "p.Met875Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387306.1",
"strand": false,
"transcript": "NM_001400377.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1014,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 2688,
"cds_end": null,
"cds_length": 3045,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909960.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2624_2625delTGinsCA",
"hgvs_p": "p.Met875Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580019.1",
"strand": false,
"transcript": "ENST00000909960.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "M",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 2760,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909964.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2615_2616delTGinsCA",
"hgvs_p": "p.Met872Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580023.1",
"strand": false,
"transcript": "ENST00000909964.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "M",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3255,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2606,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909961.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2606_2607delTGinsCA",
"hgvs_p": "p.Met869Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580020.1",
"strand": false,
"transcript": "ENST00000909961.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "M",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2597,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400378.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2597_2598delTGinsCA",
"hgvs_p": "p.Met866Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387307.1",
"strand": false,
"transcript": "NM_001400378.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "M",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2597,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909959.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2597_2598delTGinsCA",
"hgvs_p": "p.Met866Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580018.1",
"strand": false,
"transcript": "ENST00000909959.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1005,
"aa_ref": "M",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 2747,
"cds_end": null,
"cds_length": 3018,
"cds_start": 2597,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909965.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2597_2598delTGinsCA",
"hgvs_p": "p.Met866Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580024.1",
"strand": false,
"transcript": "ENST00000909965.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 998,
"aa_ref": "M",
"aa_start": 859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 2626,
"cds_end": null,
"cds_length": 2997,
"cds_start": 2576,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909963.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2576_2577delTGinsCA",
"hgvs_p": "p.Met859Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580022.1",
"strand": false,
"transcript": "ENST00000909963.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 946,
"aa_ref": "M",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 2841,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400379.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2615_2616delTGinsCA",
"hgvs_p": "p.Met872Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387308.1",
"strand": false,
"transcript": "NM_001400379.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 940,
"aa_ref": "M",
"aa_start": 866,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 2657,
"cds_end": null,
"cds_length": 2823,
"cds_start": 2597,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001400380.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2597_2598delTGinsCA",
"hgvs_p": "p.Met866Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387309.1",
"strand": false,
"transcript": "NM_001400380.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 444,
"aa_ref": "M",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1473,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599694.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.1136_1137delTGinsCA",
"hgvs_p": "p.Met379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468841.1",
"strand": false,
"transcript": "ENST00000599694.1",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1008,
"aa_ref": "M",
"aa_start": 869,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3257,
"cdna_start": 2666,
"cds_end": null,
"cds_length": 3027,
"cds_start": 2606,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528186.2",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2606_2607delTGinsCA",
"hgvs_p": "p.Met869Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526488.1",
"strand": false,
"transcript": "XM_011528186.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 980,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3092,
"cdna_start": 2684,
"cds_end": null,
"cds_length": 2943,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439231.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2624_2625delTGinsCA",
"hgvs_p": "p.Met875Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295187.1",
"strand": false,
"transcript": "XM_047439231.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 949,
"aa_ref": "M",
"aa_start": 875,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": 2684,
"cds_end": null,
"cds_length": 2850,
"cds_start": 2624,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011528187.2",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "c.2624_2625delTGinsCA",
"hgvs_p": "p.Met875Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011526489.1",
"strand": false,
"transcript": "XM_011528187.2",
"transcript_support_level": null
},
{
"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": 4278,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000602101.6",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "n.3137_3138delTGinsCA",
"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": "ENST00000602101.6",
"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": 1717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000609274.6",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "n.470_471delTGinsCA",
"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": "ENST00000609274.6",
"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": 3121,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NR_174477.1",
"gene_hgnc_id": 26129,
"gene_symbol": "RASAL3",
"hgvs_c": "n.2529_2530delTGinsCA",
"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": "NR_174477.1",
"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": 3237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NR_174478.1",
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