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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: 2-151410482-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151410482&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151410482,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018151.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "NM_018151.5",
"protein_id": "NP_060621.3",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2472,
"cds_start": 59,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444746.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018151.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000444746.7",
"protein_id": "ENSP00000390181.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 2472,
"cds_start": 59,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018151.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444746.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000243326.9",
"protein_id": "ENSP00000243326.4",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 2472,
"cds_start": 59,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243326.9"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000428287.6",
"protein_id": "ENSP00000415691.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 2446,
"cds_start": 59,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428287.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000430328.6",
"protein_id": "ENSP00000416123.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 2446,
"cds_start": 59,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430328.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000453091.6",
"protein_id": "ENSP00000414615.2",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 2446,
"cds_start": 59,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453091.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.77+449C>G",
"hgvs_p": null,
"transcript": "ENST00000414861.6",
"protein_id": "ENSP00000390486.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 843,
"cds_start": null,
"cds_end": null,
"cds_length": 2533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414861.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000925469.1",
"protein_id": "ENSP00000595528.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2464,
"cds_start": 59,
"cds_end": null,
"cds_length": 7395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925469.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000925470.1",
"protein_id": "ENSP00000595529.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2464,
"cds_start": 59,
"cds_end": null,
"cds_length": 7395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925470.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "NM_001177663.2",
"protein_id": "NP_001171134.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2446,
"cds_start": 59,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177663.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "NM_001177664.2",
"protein_id": "NP_001171135.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2446,
"cds_start": 59,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177664.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "NM_001177665.2",
"protein_id": "NP_001171136.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2446,
"cds_start": 59,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177665.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000925472.1",
"protein_id": "ENSP00000595531.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2438,
"cds_start": 59,
"cds_end": null,
"cds_length": 7317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925472.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000925473.1",
"protein_id": "ENSP00000595532.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2438,
"cds_start": 59,
"cds_end": null,
"cds_length": 7317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925473.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000925471.1",
"protein_id": "ENSP00000595530.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1482,
"cds_start": 59,
"cds_end": null,
"cds_length": 4449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925471.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "ENST00000925474.1",
"protein_id": "ENSP00000595533.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 1456,
"cds_start": 59,
"cds_end": null,
"cds_length": 4371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925474.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "XM_005246665.4",
"protein_id": "XP_005246722.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2472,
"cds_start": 59,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246665.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "XM_017004422.2",
"protein_id": "XP_016859911.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2464,
"cds_start": 59,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004422.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "XM_047444867.1",
"protein_id": "XP_047300823.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2464,
"cds_start": 59,
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"cds_length": 7395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444867.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "XM_017004423.2",
"protein_id": "XP_016859912.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2441,
"cds_start": 59,
"cds_end": null,
"cds_length": 7326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017004423.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "XM_047444868.1",
"protein_id": "XP_047300824.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2441,
"cds_start": 59,
"cds_end": null,
"cds_length": 7326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444868.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.59C>G",
"hgvs_p": "p.Ser20Cys",
"transcript": "XM_047444869.1",
"protein_id": "XP_047300825.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 2438,
"cds_start": 59,
"cds_end": null,
"cds_length": 7317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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