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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: 3-124398710-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=124398710&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 124398710,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000682506.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2185T>A",
"hgvs_p": "p.Ser729Thr",
"transcript": "NM_001388419.1",
"protein_id": "NP_001375348.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 2986,
"cds_start": 2185,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "ENST00000682506.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2185T>A",
"hgvs_p": "p.Ser729Thr",
"transcript": "ENST00000682506.1",
"protein_id": "ENSP00000508359.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 2986,
"cds_start": 2185,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 16188,
"mane_select": "NM_001388419.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "ENST00000240874.7",
"protein_id": "ENSP00000240874.3",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 1663,
"cds_start": 2179,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 6537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "ENST00000460856.5",
"protein_id": "ENSP00000418611.1",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 1654,
"cds_start": 2179,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 2336,
"cdna_end": null,
"cdna_length": 6509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "NM_001024660.5",
"protein_id": "NP_001019831.2",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 2986,
"cds_start": 2179,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 15947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "ENST00000360013.7",
"protein_id": "ENSP00000353109.3",
"transcript_support_level": 5,
"aa_start": 727,
"aa_end": null,
"aa_length": 2986,
"cds_start": 2179,
"cds_end": null,
"cds_length": 8961,
"cdna_start": 2306,
"cdna_end": null,
"cdna_length": 10806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2110T>A",
"hgvs_p": "p.Ser704Thr",
"transcript": "ENST00000354186.8",
"protein_id": "ENSP00000346122.4",
"transcript_support_level": 5,
"aa_start": 704,
"aa_end": null,
"aa_length": 2954,
"cds_start": 2110,
"cds_end": null,
"cds_length": 8865,
"cdna_start": 2112,
"cdna_end": null,
"cdna_length": 10586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "NM_001322988.2",
"protein_id": "NP_001309917.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 2396,
"cds_start": 2179,
"cds_end": null,
"cds_length": 7191,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 8131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.256T>A",
"hgvs_p": "p.Ser86Thr",
"transcript": "NM_001388412.1",
"protein_id": "NP_001375341.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1756,
"cds_start": 256,
"cds_end": null,
"cds_length": 5271,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 6256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2185T>A",
"hgvs_p": "p.Ser729Thr",
"transcript": "NM_001388417.1",
"protein_id": "NP_001375346.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1665,
"cds_start": 2185,
"cds_end": null,
"cds_length": 4998,
"cdna_start": 2557,
"cdna_end": null,
"cdna_length": 6758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "NM_003947.6",
"protein_id": "NP_003938.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1663,
"cds_start": 2179,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 2310,
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"cdna_length": 6511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2185T>A",
"hgvs_p": "p.Ser729Thr",
"transcript": "NM_001388418.1",
"protein_id": "NP_001375347.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1656,
"cds_start": 2185,
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"cdna_start": 2557,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "NM_001322989.2",
"protein_id": "NP_001309918.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 1654,
"cds_start": 2179,
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"cdna_start": 2310,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2140T>A",
"hgvs_p": "p.Ser714Thr",
"transcript": "NM_001322990.2",
"protein_id": "NP_001309919.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2140T>A",
"hgvs_p": "p.Ser714Thr",
"transcript": "NM_001322991.2",
"protein_id": "NP_001309920.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1641,
"cds_start": 2140,
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"cdna_start": 2271,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
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"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "NM_001322992.2",
"protein_id": "NP_001309921.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "ENST00000684276.1",
"protein_id": "ENSP00000508068.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.2179T>A",
"hgvs_p": "p.Ser727Thr",
"transcript": "ENST00000684186.1",
"protein_id": "ENSP00000507078.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1198,
"cds_start": 2179,
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"cdna_start": 2292,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.256T>A",
"hgvs_p": "p.Ser86Thr",
"transcript": "ENST00000682540.1",
"protein_id": "ENSP00000508328.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.367T>A",
"hgvs_p": "p.Ser123Thr",
"transcript": "ENST00000682575.1",
"protein_id": "ENSP00000507354.1",
"transcript_support_level": null,
"aa_start": 123,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 3,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.256T>A",
"hgvs_p": "p.Ser86Thr",
"transcript": "NM_001388413.1",
"protein_id": "NP_001375342.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1022,
"cds_start": 256,
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"cdna_start": 432,
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"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
"gene_hgnc_id": 4814,
"hgvs_c": "c.256T>A",
"hgvs_p": "p.Ser86Thr",
"transcript": "ENST00000682695.1",
"protein_id": "ENSP00000506956.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 1022,
"cds_start": 256,
"cds_end": null,
"cds_length": 3069,
"cdna_start": 649,
"cdna_end": null,
"cdna_length": 4839,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KALRN",
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