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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: 1-43736343-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43736343&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43736343,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006279.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "NM_006279.5",
"protein_id": "NP_006270.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 375,
"cds_start": 81,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": "ENST00000347631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000347631.8",
"protein_id": "ENSP00000317192.6",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 375,
"cds_start": 81,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 2254,
"mane_select": "NM_006279.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372372.7",
"protein_id": "ENSP00000361447.2",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 413,
"cds_start": 81,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000361746.9",
"protein_id": "ENSP00000354657.5",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 406,
"cds_start": 81,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 158,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000361392.9",
"protein_id": "ENSP00000355341.5",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 390,
"cds_start": 81,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372368.7",
"protein_id": "ENSP00000361443.3",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 380,
"cds_start": 81,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000361400.9",
"protein_id": "ENSP00000354748.4",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 359,
"cds_start": 81,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372369.5",
"protein_id": "ENSP00000361444.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 345,
"cds_start": 81,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 1038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.24G>A",
"hgvs_p": "p.Ala8Ala",
"transcript": "ENST00000533933.6",
"protein_id": "ENSP00000432965.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 307,
"cds_start": 24,
"cds_end": null,
"cds_length": 924,
"cdna_start": 24,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.6G>A",
"hgvs_p": "p.Ala2Ala",
"transcript": "ENST00000332628.11",
"protein_id": "ENSP00000329755.7",
"transcript_support_level": 1,
"aa_start": 2,
"aa_end": null,
"aa_length": 303,
"cds_start": 6,
"cds_end": null,
"cds_length": 912,
"cdna_start": 8,
"cdna_end": null,
"cdna_length": 1681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000531993.6",
"protein_id": "ENSP00000432682.2",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 230,
"cds_start": 81,
"cds_end": null,
"cds_length": 693,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372367.5",
"protein_id": "ENSP00000361442.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 201,
"cds_start": 81,
"cds_end": null,
"cds_length": 606,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372365.5",
"protein_id": "ENSP00000361440.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 186,
"cds_start": 81,
"cds_end": null,
"cds_length": 561,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000528371.5",
"protein_id": "ENSP00000434876.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 186,
"cds_start": 81,
"cds_end": null,
"cds_length": 561,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372366.6",
"protein_id": "ENSP00000361441.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 185,
"cds_start": 81,
"cds_end": null,
"cds_length": 558,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 1421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000361812.9",
"protein_id": "ENSP00000355201.4",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 170,
"cds_start": 81,
"cds_end": null,
"cds_length": 513,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 1020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000372362.6",
"protein_id": "ENSP00000361437.2",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 155,
"cds_start": 81,
"cds_end": null,
"cds_length": 468,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000531451.5",
"protein_id": "ENSP00000435603.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 139,
"cds_start": 81,
"cds_end": null,
"cds_length": 420,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "c.81G>A",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000531816.1",
"protein_id": "ENSP00000434378.1",
"transcript_support_level": 1,
"aa_start": 27,
"aa_end": null,
"aa_length": 101,
"cds_start": 81,
"cds_end": null,
"cds_length": 306,
"cdna_start": 81,
"cdna_end": null,
"cdna_length": 344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.81G>A",
"hgvs_p": null,
"transcript": "ENST00000469715.6",
"protein_id": "ENSP00000431700.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.81G>A",
"hgvs_p": null,
"transcript": "ENST00000490541.6",
"protein_id": "ENSP00000435018.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.81G>A",
"hgvs_p": null,
"transcript": "ENST00000530581.5",
"protein_id": "ENSP00000437293.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ST3GAL3",
"gene_hgnc_id": 10866,
"hgvs_c": "n.81G>A",
"hgvs_p": null,
"transcript": "ENST00000533212.5",
"protein_id": "ENSP00000435621.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7"
],
"verdict": "Benign",
"transcript": "NM_006279.5",
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"effects": [
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"inheritance_mode": "AR,AD",
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{
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"BP6_Very_Strong"
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"verdict": "Benign",
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],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Developmental and epileptic encephalopathy|Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}