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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: 11-70473398-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70473398&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70473398,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000601538.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5021C>T",
"hgvs_p": "p.Thr1674Met",
"transcript": "NM_012309.5",
"protein_id": "NP_036441.2",
"transcript_support_level": null,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5021,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5286,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "ENST00000601538.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5021C>T",
"hgvs_p": "p.Thr1674Met",
"transcript": "ENST00000601538.6",
"protein_id": "ENSP00000469689.2",
"transcript_support_level": 5,
"aa_start": 1674,
"aa_end": null,
"aa_length": 1849,
"cds_start": 5021,
"cds_end": null,
"cds_length": 5550,
"cdna_start": 5286,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": "NM_012309.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3233C>T",
"hgvs_p": "p.Thr1078Met",
"transcript": "ENST00000409161.5",
"protein_id": "ENSP00000386491.1",
"transcript_support_level": 1,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1253,
"cds_start": 3233,
"cds_end": null,
"cds_length": 3762,
"cdna_start": 3666,
"cdna_end": null,
"cdna_length": 9208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.5141C>T",
"hgvs_p": "p.Thr1714Met",
"transcript": "NM_001441024.1",
"protein_id": "NP_001427953.1",
"transcript_support_level": null,
"aa_start": 1714,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5141,
"cds_end": null,
"cds_length": 5670,
"cdna_start": 5406,
"cdna_end": null,
"cdna_length": 10950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441025.1",
"protein_id": "NP_001427954.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5235,
"cdna_end": null,
"cdna_length": 10779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441026.1",
"protein_id": "NP_001427955.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5362,
"cdna_end": null,
"cdna_length": 10906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441027.1",
"protein_id": "NP_001427956.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5495,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441028.1",
"protein_id": "NP_001427957.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5359,
"cdna_end": null,
"cdna_length": 10903,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441029.1",
"protein_id": "NP_001427958.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
"cds_end": null,
"cds_length": 5499,
"cdna_start": 5368,
"cdna_end": null,
"cdna_length": 10912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441030.1",
"protein_id": "NP_001427959.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
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"cds_length": 5499,
"cdna_start": 5282,
"cdna_end": null,
"cdna_length": 10826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441031.1",
"protein_id": "NP_001427960.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
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"cdna_start": 5541,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441032.1",
"protein_id": "NP_001427961.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
"aa_length": 1832,
"cds_start": 4970,
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"cdna_start": 5166,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441033.1",
"protein_id": "NP_001427962.1",
"transcript_support_level": null,
"aa_start": 1657,
"aa_end": null,
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"cds_start": 4970,
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"cdna_start": 5492,
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 22,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "SHANK2",
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"hgvs_c": "c.4970C>T",
"hgvs_p": "p.Thr1657Met",
"transcript": "NM_001441034.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4943C>T",
"hgvs_p": "p.Thr1648Met",
"transcript": "NM_001441035.1",
"protein_id": "NP_001427964.1",
"transcript_support_level": null,
"aa_start": 1648,
"aa_end": null,
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"cds_start": 4943,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4943C>T",
"hgvs_p": "p.Thr1648Met",
"transcript": "NM_001441036.1",
"protein_id": "NP_001427965.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4943C>T",
"hgvs_p": "p.Thr1648Met",
"transcript": "NM_001441037.1",
"protein_id": "NP_001427966.1",
"transcript_support_level": null,
"aa_start": 1648,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.4898C>T",
"hgvs_p": "p.Thr1633Met",
"transcript": "NM_001441038.1",
"protein_id": "NP_001427967.1",
"transcript_support_level": null,
"aa_start": 1633,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4898,
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"cdna_start": 5163,
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},
{
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"protein_coding": true,
"strand": false,
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],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3884C>T",
"hgvs_p": "p.Thr1295Met",
"transcript": "NM_001379226.1",
"protein_id": "NP_001366155.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 16,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3884C>T",
"hgvs_p": "p.Thr1295Met",
"transcript": "ENST00000656230.1",
"protein_id": "ENSP00000499561.1",
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},
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"consequences": [
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],
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3854C>T",
"hgvs_p": "p.Thr1285Met",
"transcript": "NM_001441040.1",
"protein_id": "NP_001427969.1",
"transcript_support_level": null,
"aa_start": 1285,
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"cds_start": 3854,
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"cdna_start": 4245,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHANK2",
"gene_hgnc_id": 14295,
"hgvs_c": "c.3806C>T",
"hgvs_p": "p.Thr1269Met",
"transcript": "NM_001441041.1",
"protein_id": "NP_001427970.1",
"transcript_support_level": null,
"aa_start": 1269,
"aa_end": null,
"aa_length": 1444,
"cds_start": 3806,
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"cdna_start": 4197,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
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}
],
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}