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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: 21-46125858-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=46125858&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 46125858,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001849.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "NM_001849.4",
"protein_id": "NP_001840.3",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300527.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001849.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000300527.9",
"protein_id": "ENSP00000300527.4",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001849.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300527.9"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "NM_058174.3",
"protein_id": "NP_478054.2",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 918,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000397763.6",
"biotype": "protein_coding",
"feature": "NM_058174.3"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000397763.6",
"protein_id": "ENSP00000380870.1",
"transcript_support_level": 5,
"aa_start": 681,
"aa_end": null,
"aa_length": 918,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_058174.3",
"biotype": "protein_coding",
"feature": "ENST00000397763.6"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2238C>G",
"hgvs_p": "p.Ile746Met",
"transcript": "ENST00000857098.1",
"protein_id": "ENSP00000527157.1",
"transcript_support_level": null,
"aa_start": 746,
"aa_end": null,
"aa_length": 1084,
"cds_start": 2238,
"cds_end": null,
"cds_length": 3255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857098.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2205C>G",
"hgvs_p": "p.Ile735Met",
"transcript": "ENST00000857103.1",
"protein_id": "ENSP00000527162.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 1073,
"cds_start": 2205,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857103.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2160C>G",
"hgvs_p": "p.Ile720Met",
"transcript": "ENST00000857092.1",
"protein_id": "ENSP00000527151.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2160,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857092.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2112C>G",
"hgvs_p": "p.Ile704Met",
"transcript": "ENST00000857106.1",
"protein_id": "ENSP00000527165.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 1042,
"cds_start": 2112,
"cds_end": null,
"cds_length": 3129,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857106.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2085C>G",
"hgvs_p": "p.Ile695Met",
"transcript": "ENST00000968880.1",
"protein_id": "ENSP00000638939.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 1033,
"cds_start": 2085,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968880.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2073C>G",
"hgvs_p": "p.Ile691Met",
"transcript": "ENST00000857101.1",
"protein_id": "ENSP00000527160.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2073,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857101.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857090.1",
"protein_id": "ENSP00000527149.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857090.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857091.1",
"protein_id": "ENSP00000527150.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857091.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857094.1",
"protein_id": "ENSP00000527153.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857094.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857096.1",
"protein_id": "ENSP00000527155.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857096.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857100.1",
"protein_id": "ENSP00000527159.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857100.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857108.1",
"protein_id": "ENSP00000527167.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857108.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000857109.1",
"protein_id": "ENSP00000527168.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857109.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000968878.1",
"protein_id": "ENSP00000638937.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968878.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000968883.1",
"protein_id": "ENSP00000638942.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968883.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ile681Met",
"transcript": "ENST00000968884.1",
"protein_id": "ENSP00000638943.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2043,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968884.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Ile679Met",
"transcript": "ENST00000968879.1",
"protein_id": "ENSP00000638938.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 1017,
"cds_start": 2037,
"cds_end": null,
"cds_length": 3054,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968879.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COL6A2",
"gene_hgnc_id": 2212,
"hgvs_c": "c.2034C>G",
"hgvs_p": "p.Ile678Met",
"transcript": "ENST00000934972.1",
"protein_id": "ENSP00000605031.1",
"transcript_support_level": null,
"aa_start": 678,
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}
],
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}