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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: 2-127423407-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=127423407&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 127423407,
"ref": "A",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000234071.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.534A>C",
"hgvs_p": "p.Ala178Ala",
"transcript": "NM_000312.4",
"protein_id": "NP_000303.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 461,
"cds_start": 534,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "ENST00000234071.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.534A>C",
"hgvs_p": "p.Ala178Ala",
"transcript": "ENST00000234071.8",
"protein_id": "ENSP00000234071.4",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 461,
"cds_start": 534,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": "NM_000312.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.-34A>C",
"hgvs_p": null,
"transcript": "XM_017004505.2",
"protein_id": "XP_016859994.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 272,
"cds_start": -4,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.720A>C",
"hgvs_p": "p.Ala240Ala",
"transcript": "NM_001375607.1",
"protein_id": "NP_001362536.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 523,
"cds_start": 720,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.717A>C",
"hgvs_p": "p.Ala239Ala",
"transcript": "NM_001375602.1",
"protein_id": "NP_001362531.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 522,
"cds_start": 717,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.702A>C",
"hgvs_p": "p.Ala234Ala",
"transcript": "NM_001375606.1",
"protein_id": "NP_001362535.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 517,
"cds_start": 702,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Ala233Ala",
"transcript": "NM_001375603.1",
"protein_id": "NP_001362532.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 516,
"cds_start": 699,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 1867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.636A>C",
"hgvs_p": "p.Ala212Ala",
"transcript": "NM_001375605.1",
"protein_id": "NP_001362534.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 495,
"cds_start": 636,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.636A>C",
"hgvs_p": "p.Ala212Ala",
"transcript": "ENST00000409048.1",
"protein_id": "ENSP00000386679.1",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 495,
"cds_start": 636,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.597A>C",
"hgvs_p": "p.Ala199Ala",
"transcript": "NM_001375604.1",
"protein_id": "NP_001362533.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 482,
"cds_start": 597,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 617,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.534A>C",
"hgvs_p": "p.Ala178Ala",
"transcript": "NM_001375611.1",
"protein_id": "NP_001362540.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 461,
"cds_start": 534,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 637,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.534A>C",
"hgvs_p": "p.Ala178Ala",
"transcript": "NM_001375613.1",
"protein_id": "NP_001362542.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 461,
"cds_start": 534,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.528A>C",
"hgvs_p": "p.Ala176Ala",
"transcript": "NM_001375610.1",
"protein_id": "NP_001362539.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 459,
"cds_start": 528,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 1763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.510A>C",
"hgvs_p": "p.Ala170Ala",
"transcript": "NM_001375609.1",
"protein_id": "NP_001362538.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 453,
"cds_start": 510,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 530,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.477A>C",
"hgvs_p": "p.Ala159Ala",
"transcript": "NM_001375608.1",
"protein_id": "NP_001362537.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 442,
"cds_start": 477,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 1712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.117A>C",
"hgvs_p": "p.Ala39Ala",
"transcript": "ENST00000402125.2",
"protein_id": "ENSP00000384225.2",
"transcript_support_level": 2,
"aa_start": 39,
"aa_end": null,
"aa_length": 235,
"cds_start": 117,
"cds_end": null,
"cds_length": 708,
"cdna_start": 119,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.477A>C",
"hgvs_p": "p.Ala159Ala",
"transcript": "ENST00000442644.5",
"protein_id": "ENSP00000411241.1",
"transcript_support_level": 3,
"aa_start": 159,
"aa_end": null,
"aa_length": 174,
"cds_start": 477,
"cds_end": null,
"cds_length": 525,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.819A>C",
"hgvs_p": "p.Ala273Ala",
"transcript": "XM_024453003.2",
"protein_id": "XP_024308771.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 556,
"cds_start": 819,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.723A>C",
"hgvs_p": "p.Ala241Ala",
"transcript": "XM_047445117.1",
"protein_id": "XP_047301073.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 524,
"cds_start": 723,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.219A>C",
"hgvs_p": "p.Ala73Ala",
"transcript": "XM_024453002.2",
"protein_id": "XP_024308770.2",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 356,
"cds_start": 219,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 1836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "c.219A>C",
"hgvs_p": "p.Ala73Ala",
"transcript": "XM_047445118.1",
"protein_id": "XP_047301074.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 356,
"cds_start": 219,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PROC",
"gene_hgnc_id": 9451,
"hgvs_c": "n.120A>C",
"hgvs_p": null,
"transcript": "ENST00000464089.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 9,
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{
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{
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],
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}
],
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}