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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: 2-73068935-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73068935&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 73068935,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001330400.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_144579.3",
"protein_id": "NP_653180.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": "ENST00000272433.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144579.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000272433.7",
"protein_id": "ENSP00000272433.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 340,
"cds_start": null,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": "NM_144579.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272433.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000410065.5",
"protein_id": "ENSP00000387076.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 253,
"cds_start": null,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 840,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410065.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000868596.1",
"protein_id": "ENSP00000538655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": null,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868596.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_001330400.2",
"protein_id": "NP_001317329.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330400.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.41+2669A>T",
"hgvs_p": null,
"transcript": "NM_001371737.1",
"protein_id": "NP_001358666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371737.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000868598.1",
"protein_id": "ENSP00000538657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 330,
"cds_start": null,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1201,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000868597.1",
"protein_id": "ENSP00000538656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 322,
"cds_start": null,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1184,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.41+2669A>T",
"hgvs_p": null,
"transcript": "NM_001371738.1",
"protein_id": "NP_001358667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 319,
"cds_start": null,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_001371739.1",
"protein_id": "NP_001358668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371739.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000868595.1",
"protein_id": "ENSP00000538654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"feature": "ENST00000868595.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "ENST00000938189.1",
"protein_id": "ENSP00000608248.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000938189.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
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"transcript": "ENST00000938190.1",
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"cds_start": null,
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"mane_select": null,
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},
{
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],
"exon_rank": null,
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"gene_symbol": "SFXN5",
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"hgvs_c": "c.102+2669A>T",
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"biotype": "protein_coding",
"feature": "NM_001371740.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_001330402.2",
"protein_id": "NP_001317331.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
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"feature": "NM_001330402.2"
},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "SFXN5",
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"hgvs_c": "c.102+2669A>T",
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"feature": "ENST00000938187.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_001371741.1",
"protein_id": "NP_001358670.1",
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"biotype": "protein_coding",
"feature": "NM_001371741.1"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_001330401.2",
"protein_id": "NP_001317330.1",
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"aa_start": null,
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"feature": "NM_001330401.2"
},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 1,
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"gene_symbol": "SFXN5",
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"hgvs_c": "c.69+2669A>T",
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"transcript": "ENST00000411783.5",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.-211+1525A>T",
"hgvs_p": null,
"transcript": "NM_001330404.2",
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"feature": "NM_001330404.2"
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.-11+1525A>T",
"hgvs_p": null,
"transcript": "NM_001330403.2",
"protein_id": "NP_001317332.1",
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"aa_start": null,
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"aa_length": 234,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330403.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SFXN5",
"gene_hgnc_id": 16073,
"hgvs_c": "c.102+2669A>T",
"hgvs_p": null,
"transcript": "NM_001371742.1",
"protein_id": "NP_001358671.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 209,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371742.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
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}